Incidental Mutation 'R4816:Igf2r'
| ID |
369852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igf2r
|
| Ensembl Gene |
ENSMUSG00000023830 |
| Gene Name |
insulin-like growth factor 2 receptor |
| Synonyms |
M6P/IGF2R, IGF-II/CI-MPR, Mpr300, CI-MPR, CD222, mannose-6-phosphate receptor, cation independent |
| MMRRC Submission |
042434-MU
|
| Accession Numbers |
Genbank: NM_010515.2; Ensembl: ENSMUST00000024599, ENSMUST00000162982, ENSMUST00000159127
|
| Essential gene? |
Probably essential
(E-score: 0.919)
|
| Stock # |
R4816 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
12682406-12769664 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12684097 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 2355
(N2355K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024599]
|
| AlphaFold |
Q07113 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024599
AA Change: N2355K
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000024599
Gene: ENSMUSG00000023830
AA Change: N2355K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
104 |
N/A |
INTRINSIC |
|
Pfam:CIMR
|
118 |
266 |
5.1e-21 |
PFAM |
|
Pfam:CIMR
|
272 |
416 |
8.8e-22 |
PFAM |
|
Pfam:CIMR
|
418 |
567 |
3.4e-53 |
PFAM |
|
Pfam:CIMR
|
569 |
709 |
6.5e-47 |
PFAM |
|
Pfam:CIMR
|
713 |
869 |
6.5e-34 |
PFAM |
|
Pfam:CIMR
|
876 |
1020 |
1.9e-10 |
PFAM |
|
Pfam:CIMR
|
1024 |
1171 |
1e-60 |
PFAM |
|
Pfam:CIMR
|
1172 |
1313 |
1.2e-17 |
PFAM |
|
Pfam:CIMR
|
1315 |
1455 |
2.1e-58 |
PFAM |
|
Pfam:CIMR
|
1458 |
1592 |
1.8e-22 |
PFAM |
|
Pfam:CIMR
|
1596 |
1743 |
9.1e-23 |
PFAM |
|
Pfam:CIMR
|
1748 |
1887 |
2.5e-22 |
PFAM |
|
FN2
|
1889 |
1935 |
9.51e-26 |
SMART |
|
Pfam:CIMR
|
1939 |
2076 |
2.1e-22 |
PFAM |
|
Pfam:CIMR
|
2230 |
2294 |
4.9e-9 |
PFAM |
|
transmembrane domain
|
2295 |
2317 |
N/A |
INTRINSIC |
|
low complexity region
|
2336 |
2363 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1337 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
97% (113/116) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015]
PHENOTYPE: Mutants inheriting maternally a targeted disruption of this gene exhibit elevated serum and tissue IGF-II levels, overgrowth, organomegaly, kinky tail, polydactyly, heart defects, edema, dyspnea, imperforate vagina, reduced fertility and perinatal death.Survival is influenced by genetic background. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(13) : Targeted, knock-out(4) Targeted, other(3) Gene trapped(6)
|
| Other mutations in this stock |
Total: 107 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010F05Rik |
A |
C |
11: 23,615,243 (GRCm38) |
I248S |
possibly damaging |
Het |
| 8030462N17Rik |
A |
T |
18: 77,653,299 (GRCm38) |
|
probably null |
Het |
| Abcc8 |
C |
A |
7: 46,104,707 (GRCm38) |
A1562S |
probably benign |
Het |
| Adam30 |
C |
A |
3: 98,162,745 (GRCm38) |
D631E |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,528,674 (GRCm38) |
T2013A |
probably damaging |
Het |
| Als2cr12 |
G |
A |
1: 58,670,408 (GRCm38) |
A196V |
probably benign |
Het |
| Baiap3 |
T |
A |
17: 25,247,295 (GRCm38) |
|
probably benign |
Het |
| Bicra |
T |
C |
7: 15,988,906 (GRCm38) |
T229A |
possibly damaging |
Het |
| C1qbp |
A |
G |
11: 70,982,364 (GRCm38) |
|
probably benign |
Het |
| C2cd3 |
C |
A |
7: 100,391,019 (GRCm38) |
T265K |
probably benign |
Het |
| Cacna1s |
T |
A |
1: 136,115,269 (GRCm38) |
I1331K |
possibly damaging |
Het |
| Cdadc1 |
AGACGGA |
AGA |
14: 59,568,991 (GRCm38) |
|
probably null |
Het |
| Cdcp2 |
A |
G |
4: 107,106,772 (GRCm38) |
Y273C |
probably damaging |
Het |
| Cdh23 |
A |
C |
10: 60,409,077 (GRCm38) |
V1013G |
possibly damaging |
Het |
| Celf3 |
T |
A |
3: 94,479,222 (GRCm38) |
I39N |
probably damaging |
Het |
| Cep152 |
A |
C |
2: 125,563,754 (GRCm38) |
S1619R |
probably damaging |
Het |
| Cfap36 |
A |
G |
11: 29,245,108 (GRCm38) |
I42T |
probably damaging |
Het |
| Cfap61 |
G |
T |
2: 146,143,100 (GRCm38) |
V955L |
probably damaging |
Het |
| Cit |
G |
A |
5: 115,908,691 (GRCm38) |
D388N |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,810,852 (GRCm38) |
M328V |
probably benign |
Het |
| Cntn4 |
A |
T |
6: 106,550,497 (GRCm38) |
I447L |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,857,934 (GRCm38) |
T1538A |
possibly damaging |
Het |
| Cstf1 |
A |
G |
2: 172,372,985 (GRCm38) |
K9E |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,575,150 (GRCm38) |
M560K |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,333,722 (GRCm38) |
T550S |
probably benign |
Het |
| Dtnb |
A |
G |
12: 3,749,505 (GRCm38) |
E460G |
probably damaging |
Het |
| Dus1l |
GAGGTAAG |
GAG |
11: 120,789,758 (GRCm38) |
|
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,671,719 (GRCm38) |
V120E |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,484,003 (GRCm38) |
Y769C |
probably benign |
Het |
| Fcho2 |
T |
C |
13: 98,806,366 (GRCm38) |
Y22C |
probably damaging |
Het |
| Gbp3 |
T |
C |
3: 142,567,574 (GRCm38) |
V294A |
probably damaging |
Het |
| Gls |
A |
G |
1: 52,199,945 (GRCm38) |
|
probably benign |
Het |
| Gm15130 |
A |
T |
2: 111,135,369 (GRCm38) |
|
probably benign |
Het |
| Gm6185 |
A |
T |
1: 161,213,158 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr171 |
T |
A |
3: 59,098,096 (GRCm38) |
H86L |
probably damaging |
Het |
| Gpr179 |
T |
C |
11: 97,339,248 (GRCm38) |
T694A |
probably damaging |
Het |
| H2-Aa |
A |
T |
17: 34,283,820 (GRCm38) |
V124E |
probably damaging |
Het |
| H2-M5 |
A |
G |
17: 36,989,417 (GRCm38) |
|
probably benign |
Het |
| Hist1h2bl |
A |
G |
13: 21,715,965 (GRCm38) |
M60T |
probably benign |
Het |
| Il9r |
A |
C |
11: 32,192,654 (GRCm38) |
S295A |
possibly damaging |
Het |
| Ipo9 |
T |
C |
1: 135,406,550 (GRCm38) |
T313A |
probably benign |
Het |
| Kalrn |
C |
T |
16: 34,514,019 (GRCm38) |
|
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,477,604 (GRCm38) |
V1175M |
possibly damaging |
Het |
| Lhpp |
T |
A |
7: 132,670,375 (GRCm38) |
C242* |
probably null |
Het |
| Lipe |
A |
G |
7: 25,380,143 (GRCm38) |
S1013P |
probably damaging |
Het |
| Lrrc25 |
C |
T |
8: 70,618,076 (GRCm38) |
T169I |
probably benign |
Het |
| Lrrc39 |
T |
C |
3: 116,568,866 (GRCm38) |
|
probably null |
Het |
| Lrrd1 |
T |
A |
5: 3,851,126 (GRCm38) |
L477* |
probably null |
Het |
| Lrriq4 |
A |
G |
3: 30,660,047 (GRCm38) |
I515V |
possibly damaging |
Het |
| Magel2 |
A |
G |
7: 62,381,092 (GRCm38) |
Y1248C |
unknown |
Het |
| Maml1 |
G |
T |
11: 50,258,335 (GRCm38) |
N859K |
possibly damaging |
Het |
| Mdm1 |
A |
T |
10: 118,146,877 (GRCm38) |
H139L |
possibly damaging |
Het |
| Mef2d |
C |
T |
3: 88,168,090 (GRCm38) |
P420S |
possibly damaging |
Het |
| Mgat4b |
A |
G |
11: 50,211,021 (GRCm38) |
K38E |
probably benign |
Het |
| Mtmr4 |
T |
C |
11: 87,604,097 (GRCm38) |
V405A |
probably damaging |
Het |
| Naip5 |
G |
A |
13: 100,219,681 (GRCm38) |
S1142F |
probably benign |
Het |
| Naip5 |
G |
A |
13: 100,219,687 (GRCm38) |
T1140M |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,219,696 (GRCm38) |
Q1137R |
probably benign |
Het |
| Nfe2l3 |
T |
C |
6: 51,456,624 (GRCm38) |
S239P |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,548,301 (GRCm38) |
I235V |
probably benign |
Het |
| Nyap2 |
T |
A |
1: 81,241,313 (GRCm38) |
L318Q |
probably damaging |
Het |
| Nynrin |
G |
A |
14: 55,872,001 (GRCm38) |
V1522M |
probably damaging |
Het |
| Olfr1016 |
A |
T |
2: 85,800,047 (GRCm38) |
N74K |
probably benign |
Het |
| Olfr1461 |
A |
G |
19: 13,165,124 (GRCm38) |
I37V |
probably benign |
Het |
| Olfr659 |
C |
T |
7: 104,670,735 (GRCm38) |
P11L |
probably benign |
Het |
| Olfr810 |
T |
C |
10: 129,791,439 (GRCm38) |
D50G |
probably damaging |
Het |
| Olfr875 |
T |
A |
9: 37,773,430 (GRCm38) |
M257K |
possibly damaging |
Het |
| Oog3 |
A |
G |
4: 144,159,161 (GRCm38) |
L289P |
probably damaging |
Het |
| Pax6 |
T |
C |
2: 105,683,784 (GRCm38) |
|
probably benign |
Het |
| Pbrm1 |
G |
A |
14: 31,110,448 (GRCm38) |
R1441K |
probably benign |
Het |
| Pcdha9 |
C |
T |
18: 36,999,458 (GRCm38) |
R527W |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,487,397 (GRCm38) |
S747P |
probably benign |
Het |
| Pcnx3 |
A |
C |
19: 5,687,995 (GRCm38) |
|
probably null |
Het |
| Pds5a |
A |
T |
5: 65,651,289 (GRCm38) |
V413E |
probably damaging |
Het |
| Phpt1 |
G |
T |
2: 25,574,320 (GRCm38) |
|
probably benign |
Het |
| Phykpl |
A |
G |
11: 51,592,953 (GRCm38) |
E220G |
probably benign |
Het |
| Pias2 |
T |
C |
18: 77,105,891 (GRCm38) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,199,415 (GRCm38) |
I3302L |
probably damaging |
Het |
| Poli |
A |
G |
18: 70,522,751 (GRCm38) |
L241P |
probably damaging |
Het |
| Ppm1h |
T |
A |
10: 122,679,379 (GRCm38) |
I65N |
possibly damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,856,800 (GRCm38) |
L954P |
probably damaging |
Het |
| Pxk |
T |
G |
14: 8,136,893 (GRCm38) |
M138R |
probably damaging |
Het |
| Rasl11b |
G |
T |
5: 74,198,397 (GRCm38) |
D188Y |
probably damaging |
Het |
| Rtraf |
A |
G |
14: 19,822,576 (GRCm38) |
F59S |
probably benign |
Het |
| Serpinb5 |
G |
T |
1: 106,872,339 (GRCm38) |
L86F |
probably damaging |
Het |
| Setdb2 |
G |
A |
14: 59,413,646 (GRCm38) |
T412I |
probably benign |
Het |
| Shank2 |
C |
A |
7: 144,052,306 (GRCm38) |
N75K |
probably damaging |
Het |
| Shank3 |
T |
A |
15: 89,543,115 (GRCm38) |
I791N |
probably damaging |
Het |
| Slc25a13 |
T |
A |
6: 6,114,274 (GRCm38) |
M213L |
possibly damaging |
Het |
| Slc25a21 |
T |
C |
12: 56,713,838 (GRCm38) |
Y298C |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,069,020 (GRCm38) |
N495S |
probably damaging |
Het |
| Smc2 |
A |
G |
4: 52,451,231 (GRCm38) |
T292A |
probably benign |
Het |
| Spag9 |
T |
C |
11: 94,048,599 (GRCm38) |
|
probably benign |
Het |
| Tas2r113 |
C |
T |
6: 132,893,782 (GRCm38) |
P258S |
probably benign |
Het |
| Tbkbp1 |
T |
C |
11: 97,138,741 (GRCm38) |
S530G |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 36,027,290 (GRCm38) |
V1881A |
probably damaging |
Het |
| Tm9sf1 |
C |
T |
14: 55,641,149 (GRCm38) |
R262Q |
possibly damaging |
Het |
| Tmcc3 |
G |
T |
10: 94,578,784 (GRCm38) |
G147V |
possibly damaging |
Het |
| Trim38 |
A |
T |
13: 23,788,281 (GRCm38) |
E195V |
probably damaging |
Het |
| Try5 |
T |
C |
6: 41,313,415 (GRCm38) |
Y45C |
probably benign |
Het |
| Umad1 |
A |
C |
6: 8,457,462 (GRCm38) |
|
probably benign |
Het |
| Vmn2r105 |
T |
C |
17: 20,208,691 (GRCm38) |
I708V |
probably benign |
Het |
| Zc3h12d |
A |
T |
10: 7,867,947 (GRCm38) |
S494C |
probably damaging |
Het |
| Zeb2 |
A |
G |
2: 44,997,768 (GRCm38) |
S382P |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,415,694 (GRCm38) |
S1304G |
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,714,248 (GRCm38) |
T611K |
probably damaging |
Het |
| Zfp534 |
G |
A |
4: 147,674,286 (GRCm38) |
T642I |
possibly damaging |
Het |
|
| Other mutations in Igf2r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00161:Igf2r
|
APN |
17 |
12,713,990 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00534:Igf2r
|
APN |
17 |
12,739,328 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL00902:Igf2r
|
APN |
17 |
12,700,358 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00903:Igf2r
|
APN |
17 |
12,683,867 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL01160:Igf2r
|
APN |
17 |
12,704,775 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
IGL01380:Igf2r
|
APN |
17 |
12,695,374 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01392:Igf2r
|
APN |
17 |
12,704,349 (GRCm38) |
missense |
probably benign |
|
|
IGL01557:Igf2r
|
APN |
17 |
12,704,635 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL01568:Igf2r
|
APN |
17 |
12,683,985 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01611:Igf2r
|
APN |
17 |
12,725,415 (GRCm38) |
nonsense |
probably null |
|
|
IGL01720:Igf2r
|
APN |
17 |
12,701,313 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01756:Igf2r
|
APN |
17 |
12,683,822 (GRCm38) |
missense |
probably benign |
|
|
IGL01839:Igf2r
|
APN |
17 |
12,705,022 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01904:Igf2r
|
APN |
17 |
12,714,911 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01965:Igf2r
|
APN |
17 |
12,704,338 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL02083:Igf2r
|
APN |
17 |
12,693,192 (GRCm38) |
nonsense |
probably null |
|
|
IGL02095:Igf2r
|
APN |
17 |
12,702,005 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02183:Igf2r
|
APN |
17 |
12,698,516 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02576:Igf2r
|
APN |
17 |
12,748,763 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02649:Igf2r
|
APN |
17 |
12,712,087 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02807:Igf2r
|
APN |
17 |
12,719,883 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02833:Igf2r
|
APN |
17 |
12,692,723 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02885:Igf2r
|
APN |
17 |
12,694,120 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02990:Igf2r
|
APN |
17 |
12,710,746 (GRCm38) |
splice site |
probably benign |
|
|
IGL03080:Igf2r
|
APN |
17 |
12,726,676 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL03176:Igf2r
|
APN |
17 |
12,716,672 (GRCm38) |
missense |
probably damaging |
1.00 |
|
blunt
|
UTSW |
17 |
12,722,175 (GRCm38) |
missense |
probably benign |
0.02 |
|
brusque
|
UTSW |
17 |
12,714,951 (GRCm38) |
missense |
probably damaging |
0.98 |
|
gruff
|
UTSW |
17 |
12,684,097 (GRCm38) |
missense |
probably damaging |
0.96 |
|
outlier
|
UTSW |
17 |
12,695,314 (GRCm38) |
missense |
probably benign |
0.20 |
|
NA:Igf2r
|
UTSW |
17 |
12,691,962 (GRCm38) |
missense |
probably benign |
|
|
R0165:Igf2r
|
UTSW |
17 |
12,698,527 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0412:Igf2r
|
UTSW |
17 |
12,683,948 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0523:Igf2r
|
UTSW |
17 |
12,692,064 (GRCm38) |
missense |
probably benign |
0.27 |
|
R0631:Igf2r
|
UTSW |
17 |
12,717,274 (GRCm38) |
splice site |
probably null |
|
|
R0722:Igf2r
|
UTSW |
17 |
12,715,495 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R0894:Igf2r
|
UTSW |
17 |
12,692,101 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1265:Igf2r
|
UTSW |
17 |
12,694,124 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1466:Igf2r
|
UTSW |
17 |
12,717,269 (GRCm38) |
splice site |
probably benign |
|
|
R1485:Igf2r
|
UTSW |
17 |
12,691,285 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1633:Igf2r
|
UTSW |
17 |
12,726,309 (GRCm38) |
missense |
probably benign |
|
|
R1693:Igf2r
|
UTSW |
17 |
12,704,316 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1751:Igf2r
|
UTSW |
17 |
12,697,441 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1843:Igf2r
|
UTSW |
17 |
12,704,270 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1981:Igf2r
|
UTSW |
17 |
12,733,903 (GRCm38) |
nonsense |
probably null |
|
|
R1994:Igf2r
|
UTSW |
17 |
12,692,738 (GRCm38) |
missense |
probably benign |
|
|
R2060:Igf2r
|
UTSW |
17 |
12,701,319 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2108:Igf2r
|
UTSW |
17 |
12,698,251 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2132:Igf2r
|
UTSW |
17 |
12,722,208 (GRCm38) |
missense |
probably benign |
0.12 |
|
R2314:Igf2r
|
UTSW |
17 |
12,715,943 (GRCm38) |
missense |
probably benign |
0.28 |
|
R2349:Igf2r
|
UTSW |
17 |
12,722,311 (GRCm38) |
splice site |
probably null |
|
|
R2696:Igf2r
|
UTSW |
17 |
12,695,344 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R2864:Igf2r
|
UTSW |
17 |
12,686,724 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2865:Igf2r
|
UTSW |
17 |
12,686,724 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3884:Igf2r
|
UTSW |
17 |
12,709,468 (GRCm38) |
missense |
probably benign |
|
|
R3930:Igf2r
|
UTSW |
17 |
12,705,829 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4021:Igf2r
|
UTSW |
17 |
12,748,751 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4125:Igf2r
|
UTSW |
17 |
12,702,254 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4342:Igf2r
|
UTSW |
17 |
12,709,511 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4343:Igf2r
|
UTSW |
17 |
12,709,511 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4345:Igf2r
|
UTSW |
17 |
12,709,511 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4760:Igf2r
|
UTSW |
17 |
12,703,465 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4796:Igf2r
|
UTSW |
17 |
12,684,126 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R4826:Igf2r
|
UTSW |
17 |
12,701,353 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4933:Igf2r
|
UTSW |
17 |
12,691,877 (GRCm38) |
splice site |
probably null |
|
|
R4980:Igf2r
|
UTSW |
17 |
12,703,360 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5389:Igf2r
|
UTSW |
17 |
12,725,416 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5473:Igf2r
|
UTSW |
17 |
12,695,314 (GRCm38) |
missense |
probably benign |
0.20 |
|
R5494:Igf2r
|
UTSW |
17 |
12,693,145 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R5619:Igf2r
|
UTSW |
17 |
12,739,334 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5738:Igf2r
|
UTSW |
17 |
12,717,367 (GRCm38) |
missense |
probably benign |
0.23 |
|
R5761:Igf2r
|
UTSW |
17 |
12,698,352 (GRCm38) |
splice site |
probably null |
|
|
R5794:Igf2r
|
UTSW |
17 |
12,709,445 (GRCm38) |
missense |
probably benign |
0.37 |
|
R6210:Igf2r
|
UTSW |
17 |
12,714,951 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6319:Igf2r
|
UTSW |
17 |
12,714,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6388:Igf2r
|
UTSW |
17 |
12,683,900 (GRCm38) |
missense |
probably benign |
|
|
R6396:Igf2r
|
UTSW |
17 |
12,714,090 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6584:Igf2r
|
UTSW |
17 |
12,701,250 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6590:Igf2r
|
UTSW |
17 |
12,691,937 (GRCm38) |
nonsense |
probably null |
|
|
R6591:Igf2r
|
UTSW |
17 |
12,689,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6599:Igf2r
|
UTSW |
17 |
12,698,618 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6690:Igf2r
|
UTSW |
17 |
12,691,937 (GRCm38) |
nonsense |
probably null |
|
|
R6691:Igf2r
|
UTSW |
17 |
12,689,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6752:Igf2r
|
UTSW |
17 |
12,714,944 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6816:Igf2r
|
UTSW |
17 |
12,714,082 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6841:Igf2r
|
UTSW |
17 |
12,703,376 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6877:Igf2r
|
UTSW |
17 |
12,697,341 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6950:Igf2r
|
UTSW |
17 |
12,718,718 (GRCm38) |
missense |
probably benign |
|
|
R7030:Igf2r
|
UTSW |
17 |
12,733,866 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7038:Igf2r
|
UTSW |
17 |
12,698,325 (GRCm38) |
missense |
probably benign |
0.23 |
|
R7055:Igf2r
|
UTSW |
17 |
12,704,323 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7074:Igf2r
|
UTSW |
17 |
12,714,116 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R7348:Igf2r
|
UTSW |
17 |
12,703,484 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7413:Igf2r
|
UTSW |
17 |
12,698,228 (GRCm38) |
nonsense |
probably null |
|
|
R7463:Igf2r
|
UTSW |
17 |
12,710,645 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7619:Igf2r
|
UTSW |
17 |
12,698,273 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7730:Igf2r
|
UTSW |
17 |
12,735,991 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7733:Igf2r
|
UTSW |
17 |
12,739,369 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7881:Igf2r
|
UTSW |
17 |
12,748,704 (GRCm38) |
missense |
probably benign |
|
|
R8022:Igf2r
|
UTSW |
17 |
12,718,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8138:Igf2r
|
UTSW |
17 |
12,701,238 (GRCm38) |
missense |
probably benign |
0.32 |
|
R8220:Igf2r
|
UTSW |
17 |
12,692,071 (GRCm38) |
missense |
probably benign |
0.22 |
|
R8305:Igf2r
|
UTSW |
17 |
12,733,860 (GRCm38) |
missense |
probably benign |
|
|
R8359:Igf2r
|
UTSW |
17 |
12,683,861 (GRCm38) |
missense |
probably benign |
|
|
R8500:Igf2r
|
UTSW |
17 |
12,709,441 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8510:Igf2r
|
UTSW |
17 |
12,704,313 (GRCm38) |
missense |
probably benign |
0.38 |
|
R8933:Igf2r
|
UTSW |
17 |
12,704,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8933:Igf2r
|
UTSW |
17 |
12,701,244 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8976:Igf2r
|
UTSW |
17 |
12,726,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8994:Igf2r
|
UTSW |
17 |
12,716,650 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R9059:Igf2r
|
UTSW |
17 |
12,751,293 (GRCm38) |
start codon destroyed |
probably null |
|
|
R9097:Igf2r
|
UTSW |
17 |
12,691,213 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9127:Igf2r
|
UTSW |
17 |
12,739,351 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9278:Igf2r
|
UTSW |
17 |
12,695,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9362:Igf2r
|
UTSW |
17 |
12,722,175 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9371:Igf2r
|
UTSW |
17 |
12,705,759 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9522:Igf2r
|
UTSW |
17 |
12,698,328 (GRCm38) |
missense |
probably benign |
0.26 |
|
R9567:Igf2r
|
UTSW |
17 |
12,686,754 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9665:Igf2r
|
UTSW |
17 |
12,694,140 (GRCm38) |
missense |
probably benign |
0.17 |
|
R9666:Igf2r
|
UTSW |
17 |
12,726,701 (GRCm38) |
missense |
probably benign |
|
|
X0028:Igf2r
|
UTSW |
17 |
12,704,913 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Igf2r
|
UTSW |
17 |
12,697,399 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCACCTCTGGAACGGTCAG -3'
(R):5'- CAACAGTCATGAGCCCTGTC -3'
Sequencing Primer
(F):5'- GGACCTCATCCTCACTGTCCTG -3'
(R):5'- AGTCATGAGCCCTGTCAGGTC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation