Incidental Mutation 'R4615:Itprid2'
ID |
345000 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itprid2
|
Ensembl Gene |
ENSMUSG00000027007 |
Gene Name |
ITPR interacting domain containing 2 |
Synonyms |
Ssfa2, CS1, CS-1, SPAG13, KRAP |
MMRRC Submission |
041826-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.493)
|
Stock # |
R4615 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
79465696-79503310 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79492726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1091
(E1091G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107415
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111784]
[ENSMUST00000111785]
[ENSMUST00000111788]
|
AlphaFold |
Q922B9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111784
AA Change: E1069G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000107414 Gene: ENSMUSG00000027007 AA Change: E1069G
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
57 |
N/A |
INTRINSIC |
KRAP_IP3R_bind
|
144 |
302 |
6.78e-81 |
SMART |
low complexity region
|
357 |
374 |
N/A |
INTRINSIC |
low complexity region
|
423 |
445 |
N/A |
INTRINSIC |
low complexity region
|
743 |
759 |
N/A |
INTRINSIC |
Pfam:SSFA2_C
|
858 |
1029 |
7.5e-88 |
PFAM |
low complexity region
|
1081 |
1095 |
N/A |
INTRINSIC |
low complexity region
|
1144 |
1156 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111785
AA Change: E1091G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107415 Gene: ENSMUSG00000027007 AA Change: E1091G
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
57 |
N/A |
INTRINSIC |
KRAP_IP3R_bind
|
144 |
302 |
6.78e-81 |
SMART |
low complexity region
|
357 |
374 |
N/A |
INTRINSIC |
low complexity region
|
423 |
445 |
N/A |
INTRINSIC |
low complexity region
|
743 |
759 |
N/A |
INTRINSIC |
Pfam:SSFA2_C
|
861 |
1029 |
8.9e-83 |
PFAM |
low complexity region
|
1103 |
1117 |
N/A |
INTRINSIC |
low complexity region
|
1166 |
1178 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111788
AA Change: E1091G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107418 Gene: ENSMUSG00000027007 AA Change: E1091G
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
57 |
N/A |
INTRINSIC |
KRAP_IP3R_bind
|
144 |
302 |
6.78e-81 |
SMART |
low complexity region
|
357 |
374 |
N/A |
INTRINSIC |
low complexity region
|
423 |
445 |
N/A |
INTRINSIC |
low complexity region
|
743 |
759 |
N/A |
INTRINSIC |
Pfam:SSFA2_C
|
858 |
1029 |
7.4e-88 |
PFAM |
low complexity region
|
1103 |
1117 |
N/A |
INTRINSIC |
low complexity region
|
1166 |
1178 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133266
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display decreased body weight, resistance to diet induced obesity, increased food intake, decreased adipose tissue mass, elevated metabolic rate, abnormal glucose homeostasis, and abnormal hormone levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,369,493 (GRCm39) |
I363V |
probably benign |
Het |
Abcc9 |
C |
G |
6: 142,634,833 (GRCm39) |
A144P |
possibly damaging |
Het |
Adgrv1 |
C |
T |
13: 81,642,688 (GRCm39) |
|
probably null |
Het |
Adprhl1 |
A |
G |
8: 13,292,250 (GRCm39) |
|
probably null |
Het |
Angptl3 |
A |
T |
4: 98,919,598 (GRCm39) |
E119D |
probably benign |
Het |
Atp8b1 |
T |
C |
18: 64,686,170 (GRCm39) |
N671S |
probably null |
Het |
C9 |
A |
G |
15: 6,520,944 (GRCm39) |
D51G |
probably damaging |
Het |
Carmil2 |
A |
G |
8: 106,421,706 (GRCm39) |
D1019G |
possibly damaging |
Het |
Cdh8 |
A |
T |
8: 100,006,254 (GRCm39) |
I111K |
probably damaging |
Het |
Cep120 |
T |
C |
18: 53,847,913 (GRCm39) |
R649G |
probably damaging |
Het |
Clptm1l |
A |
T |
13: 73,755,857 (GRCm39) |
K158* |
probably null |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Cnga1 |
A |
C |
5: 72,762,117 (GRCm39) |
L466V |
probably damaging |
Het |
Cpsf1 |
T |
C |
15: 76,481,137 (GRCm39) |
T1240A |
possibly damaging |
Het |
Cubn |
A |
G |
2: 13,433,560 (GRCm39) |
S1117P |
probably damaging |
Het |
Cyp2b9 |
T |
A |
7: 25,900,550 (GRCm39) |
L396Q |
probably damaging |
Het |
Cyp8b1 |
A |
T |
9: 121,745,164 (GRCm39) |
L56* |
probably null |
Het |
Dcbld2 |
A |
G |
16: 58,276,457 (GRCm39) |
T458A |
probably benign |
Het |
Dio2 |
G |
T |
12: 90,696,595 (GRCm39) |
P131Q |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,208,236 (GRCm39) |
Y990C |
probably damaging |
Het |
Dsc3 |
T |
C |
18: 20,104,545 (GRCm39) |
D594G |
possibly damaging |
Het |
Dsp |
A |
G |
13: 38,375,608 (GRCm39) |
E1131G |
probably damaging |
Het |
Fdx1 |
A |
T |
9: 51,859,945 (GRCm39) |
Y21* |
probably null |
Het |
Gal3st4 |
A |
G |
5: 138,264,525 (GRCm39) |
V158A |
probably damaging |
Het |
Gm10269 |
T |
A |
18: 20,815,820 (GRCm39) |
E67D |
probably benign |
Het |
Gm5773 |
A |
G |
3: 93,681,339 (GRCm39) |
H337R |
probably benign |
Het |
Gng2 |
C |
T |
14: 19,941,395 (GRCm39) |
V16I |
possibly damaging |
Het |
Gpr20 |
T |
C |
15: 73,567,585 (GRCm39) |
N268S |
probably benign |
Het |
Ighv1-82 |
T |
C |
12: 115,916,280 (GRCm39) |
T77A |
probably benign |
Het |
Lama2 |
C |
A |
10: 26,857,520 (GRCm39) |
V3110F |
probably damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mtmr4 |
T |
C |
11: 87,501,761 (GRCm39) |
L548S |
probably damaging |
Het |
Ncapg |
A |
T |
5: 45,844,741 (GRCm39) |
M579L |
probably benign |
Het |
Oog3 |
A |
T |
4: 143,884,899 (GRCm39) |
Y346N |
probably benign |
Het |
Or10ak14 |
T |
C |
4: 118,611,334 (GRCm39) |
T134A |
probably benign |
Het |
Or14c39 |
T |
C |
7: 86,343,936 (GRCm39) |
S91P |
probably damaging |
Het |
Orm2 |
A |
G |
4: 63,281,536 (GRCm39) |
D89G |
probably damaging |
Het |
Pcdhb4 |
T |
A |
18: 37,441,553 (GRCm39) |
S288T |
probably benign |
Het |
Pcsk2 |
G |
T |
2: 143,637,889 (GRCm39) |
C375F |
probably damaging |
Het |
Pdcd10 |
T |
C |
3: 75,428,398 (GRCm39) |
I138M |
probably damaging |
Het |
Pde8a |
T |
C |
7: 80,970,485 (GRCm39) |
W536R |
probably damaging |
Het |
Phkg2 |
C |
T |
7: 127,176,792 (GRCm39) |
R61W |
probably damaging |
Het |
Plcl1 |
A |
T |
1: 55,737,293 (GRCm39) |
N878I |
probably benign |
Het |
Prkdc |
A |
T |
16: 15,480,938 (GRCm39) |
D353V |
probably damaging |
Het |
Psme4 |
C |
T |
11: 30,784,287 (GRCm39) |
T954I |
probably benign |
Het |
Ran |
A |
G |
5: 129,099,162 (GRCm39) |
I115V |
probably benign |
Het |
Reln |
A |
G |
5: 22,177,870 (GRCm39) |
L1867P |
possibly damaging |
Het |
S100a1 |
A |
G |
3: 90,418,562 (GRCm39) |
V84A |
possibly damaging |
Het |
Sall2 |
G |
A |
14: 52,550,207 (GRCm39) |
P994L |
probably benign |
Het |
Shtn1 |
A |
T |
19: 59,010,648 (GRCm39) |
I273N |
probably benign |
Het |
Slc17a9 |
T |
C |
2: 180,373,699 (GRCm39) |
I40T |
probably benign |
Het |
Slc29a2 |
T |
C |
19: 5,079,292 (GRCm39) |
V305A |
probably damaging |
Het |
Taar2 |
T |
A |
10: 23,817,263 (GRCm39) |
F268I |
probably benign |
Het |
Taf3 |
G |
A |
2: 9,956,901 (GRCm39) |
T422I |
probably damaging |
Het |
Tgs1 |
T |
C |
4: 3,585,156 (GRCm39) |
F99L |
probably damaging |
Het |
Tox2 |
T |
C |
2: 163,162,567 (GRCm39) |
L479P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,597,219 (GRCm39) |
I19898T |
probably damaging |
Het |
Ulk1 |
G |
T |
5: 110,936,912 (GRCm39) |
T3N |
probably damaging |
Het |
Vars1 |
A |
T |
17: 35,232,857 (GRCm39) |
K900N |
probably damaging |
Het |
Vmn2r15 |
A |
G |
5: 109,441,348 (GRCm39) |
V170A |
possibly damaging |
Het |
Vmn2r53 |
A |
T |
7: 12,316,229 (GRCm39) |
L530Q |
probably damaging |
Het |
Zar1l |
G |
T |
5: 150,441,528 (GRCm39) |
Q33K |
probably benign |
Het |
Zdhhc16 |
T |
C |
19: 41,932,122 (GRCm39) |
V358A |
possibly damaging |
Het |
|
Other mutations in Itprid2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00785:Itprid2
|
APN |
2 |
79,487,612 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL00792:Itprid2
|
APN |
2 |
79,487,807 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00900:Itprid2
|
APN |
2 |
79,490,822 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00902:Itprid2
|
APN |
2 |
79,490,822 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01682:Itprid2
|
APN |
2 |
79,465,981 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01683:Itprid2
|
APN |
2 |
79,501,069 (GRCm39) |
intron |
probably benign |
|
IGL01832:Itprid2
|
APN |
2 |
79,481,762 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02253:Itprid2
|
APN |
2 |
79,490,788 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02342:Itprid2
|
APN |
2 |
79,490,629 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02420:Itprid2
|
APN |
2 |
79,465,986 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02445:Itprid2
|
APN |
2 |
79,487,842 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02649:Itprid2
|
APN |
2 |
79,472,303 (GRCm39) |
splice site |
probably benign |
|
IGL03242:Itprid2
|
APN |
2 |
79,473,815 (GRCm39) |
nonsense |
probably null |
|
IGL03266:Itprid2
|
APN |
2 |
79,472,534 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03342:Itprid2
|
APN |
2 |
79,490,796 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03352:Itprid2
|
APN |
2 |
79,475,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R0255:Itprid2
|
UTSW |
2 |
79,490,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R0526:Itprid2
|
UTSW |
2 |
79,487,690 (GRCm39) |
missense |
probably benign |
0.01 |
R0543:Itprid2
|
UTSW |
2 |
79,474,850 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1114:Itprid2
|
UTSW |
2 |
79,487,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R1701:Itprid2
|
UTSW |
2 |
79,466,394 (GRCm39) |
missense |
probably damaging |
1.00 |
R1734:Itprid2
|
UTSW |
2 |
79,488,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R1945:Itprid2
|
UTSW |
2 |
79,492,996 (GRCm39) |
missense |
probably benign |
0.03 |
R2188:Itprid2
|
UTSW |
2 |
79,475,267 (GRCm39) |
missense |
probably benign |
0.01 |
R2941:Itprid2
|
UTSW |
2 |
79,466,000 (GRCm39) |
missense |
probably benign |
0.19 |
R4087:Itprid2
|
UTSW |
2 |
79,488,691 (GRCm39) |
nonsense |
probably null |
|
R4107:Itprid2
|
UTSW |
2 |
79,475,175 (GRCm39) |
missense |
probably damaging |
0.97 |
R4355:Itprid2
|
UTSW |
2 |
79,472,342 (GRCm39) |
missense |
probably benign |
0.02 |
R4497:Itprid2
|
UTSW |
2 |
79,488,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R4726:Itprid2
|
UTSW |
2 |
79,493,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R5818:Itprid2
|
UTSW |
2 |
79,474,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R5889:Itprid2
|
UTSW |
2 |
79,488,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R6169:Itprid2
|
UTSW |
2 |
79,475,406 (GRCm39) |
missense |
probably damaging |
0.99 |
R6337:Itprid2
|
UTSW |
2 |
79,485,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R6677:Itprid2
|
UTSW |
2 |
79,485,445 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6709:Itprid2
|
UTSW |
2 |
79,475,276 (GRCm39) |
missense |
probably benign |
0.00 |
R6855:Itprid2
|
UTSW |
2 |
79,488,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R6856:Itprid2
|
UTSW |
2 |
79,488,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R7075:Itprid2
|
UTSW |
2 |
79,466,004 (GRCm39) |
missense |
probably damaging |
0.99 |
R7319:Itprid2
|
UTSW |
2 |
79,466,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R7414:Itprid2
|
UTSW |
2 |
79,475,072 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7590:Itprid2
|
UTSW |
2 |
79,488,454 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7722:Itprid2
|
UTSW |
2 |
79,492,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R7923:Itprid2
|
UTSW |
2 |
79,492,959 (GRCm39) |
nonsense |
probably null |
|
R8155:Itprid2
|
UTSW |
2 |
79,475,177 (GRCm39) |
missense |
probably benign |
0.01 |
R8175:Itprid2
|
UTSW |
2 |
79,488,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R8237:Itprid2
|
UTSW |
2 |
79,487,614 (GRCm39) |
missense |
probably benign |
0.01 |
R8341:Itprid2
|
UTSW |
2 |
79,488,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R8353:Itprid2
|
UTSW |
2 |
79,475,129 (GRCm39) |
missense |
probably benign |
0.01 |
R8364:Itprid2
|
UTSW |
2 |
79,481,787 (GRCm39) |
missense |
probably damaging |
0.99 |
R8365:Itprid2
|
UTSW |
2 |
79,492,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R8453:Itprid2
|
UTSW |
2 |
79,475,129 (GRCm39) |
missense |
probably benign |
0.01 |
R8507:Itprid2
|
UTSW |
2 |
79,475,208 (GRCm39) |
missense |
probably benign |
|
R8874:Itprid2
|
UTSW |
2 |
79,487,684 (GRCm39) |
missense |
probably benign |
|
R8953:Itprid2
|
UTSW |
2 |
79,490,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R8978:Itprid2
|
UTSW |
2 |
79,491,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R9033:Itprid2
|
UTSW |
2 |
79,465,938 (GRCm39) |
missense |
probably damaging |
0.97 |
R9067:Itprid2
|
UTSW |
2 |
79,475,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGGGTATGGCTTGAGATTAC -3'
(R):5'- CCACAGAGGCTCGGAATATC -3'
Sequencing Primer
(F):5'- GTGTGTGTGAATAAAATTGACCAGC -3'
(R):5'- ACAGAGGCTCGGAATATCTTCTTTC -3'
|
Posted On |
2015-09-25 |