Incidental Mutation 'R1701:Itprid2'
| ID |
189699 |
| 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 |
039734-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.493)
|
| Stock # |
R1701 (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 79466394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 75
(K75E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111784]
[ENSMUST00000111785]
[ENSMUST00000111788]
|
| AlphaFold |
Q922B9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111784
AA Change: K75E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107414
Gene: ENSMUSG00000027007
AA Change: K75E
| 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 |
possibly damaging
Transcript: ENSMUST00000111785
AA Change: K75E
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107415
Gene: ENSMUSG00000027007
AA Change: K75E
| 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: K75E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107418
Gene: ENSMUSG00000027007
AA Change: K75E
| 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: ENSMUST00000124938
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133266
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,190,142 (GRCm39) |
L53P |
probably damaging |
Het |
| Acadsb |
T |
A |
7: 131,026,213 (GRCm39) |
F19I |
probably benign |
Het |
| Aldh3a2 |
C |
T |
11: 61,147,598 (GRCm39) |
G303S |
probably damaging |
Het |
| Anks1b |
T |
C |
10: 89,885,816 (GRCm39) |
Y171H |
probably damaging |
Het |
| Anxa7 |
A |
T |
14: 20,510,229 (GRCm39) |
I385N |
probably damaging |
Het |
| Astn1 |
A |
T |
1: 158,331,877 (GRCm39) |
T324S |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,427,427 (GRCm39) |
V235A |
possibly damaging |
Het |
| Crhr2 |
T |
C |
6: 55,076,255 (GRCm39) |
K258R |
probably damaging |
Het |
| Ctnnd1 |
T |
C |
2: 84,439,335 (GRCm39) |
E786G |
probably damaging |
Het |
| Ctnnd2 |
G |
A |
15: 30,922,127 (GRCm39) |
D918N |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,802,750 (GRCm39) |
S200P |
probably damaging |
Het |
| Dot1l |
T |
C |
10: 80,626,576 (GRCm39) |
S1266P |
possibly damaging |
Het |
| Efemp1 |
A |
G |
11: 28,871,750 (GRCm39) |
T422A |
possibly damaging |
Het |
| Fam135b |
T |
C |
15: 71,331,578 (GRCm39) |
H1137R |
probably damaging |
Het |
| Flot2 |
C |
T |
11: 77,940,373 (GRCm39) |
S40L |
possibly damaging |
Het |
| Fras1 |
G |
A |
5: 96,748,643 (GRCm39) |
S706N |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,250,114 (GRCm39) |
L357P |
probably damaging |
Het |
| Gpatch2l |
A |
G |
12: 86,335,726 (GRCm39) |
S476G |
probably benign |
Het |
| Hbb-bh2 |
T |
C |
7: 103,489,450 (GRCm39) |
T34A |
probably benign |
Het |
| Ints8 |
A |
G |
4: 11,231,656 (GRCm39) |
L443P |
probably damaging |
Het |
| Intu |
T |
A |
3: 40,618,694 (GRCm39) |
D233E |
probably damaging |
Het |
| Kctd1 |
T |
A |
18: 15,102,617 (GRCm39) |
I259L |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,863,162 (GRCm39) |
C108R |
probably damaging |
Het |
| Lgals3bp |
T |
C |
11: 118,284,781 (GRCm39) |
Y266C |
probably damaging |
Het |
| Lrig2 |
T |
C |
3: 104,401,993 (GRCm39) |
I111V |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,872,539 (GRCm39) |
N936S |
probably damaging |
Het |
| Myh8 |
G |
T |
11: 67,170,964 (GRCm39) |
C125F |
probably damaging |
Het |
| Or2d3c |
C |
A |
7: 106,526,129 (GRCm39) |
C179F |
probably damaging |
Het |
| Or2h2 |
C |
T |
17: 37,396,623 (GRCm39) |
V145M |
probably benign |
Het |
| Or51a10 |
T |
C |
7: 103,699,402 (GRCm39) |
E53G |
possibly damaging |
Het |
| Or5ac21 |
T |
C |
16: 59,123,651 (GRCm39) |
I46T |
probably benign |
Het |
| Or5p76 |
T |
G |
7: 108,122,731 (GRCm39) |
Q142P |
probably benign |
Het |
| Or5w16 |
T |
A |
2: 87,576,894 (GRCm39) |
M118K |
probably damaging |
Het |
| Or6c202 |
T |
C |
10: 128,995,974 (GRCm39) |
Q293R |
probably damaging |
Het |
| Or8g4 |
A |
T |
9: 39,662,365 (GRCm39) |
I228F |
probably damaging |
Het |
| Pate8 |
A |
G |
9: 36,493,114 (GRCm39) |
|
probably benign |
Het |
| Phc2 |
C |
T |
4: 128,645,400 (GRCm39) |
P836S |
probably damaging |
Het |
| Pla2g7 |
T |
C |
17: 43,911,415 (GRCm39) |
F189S |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,342,054 (GRCm39) |
D487G |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,577,692 (GRCm39) |
|
probably null |
Het |
| Robo4 |
G |
T |
9: 37,314,739 (GRCm39) |
V198L |
probably benign |
Het |
| Selenbp1 |
C |
A |
3: 94,844,701 (GRCm39) |
H119Q |
probably damaging |
Het |
| Slc25a13 |
T |
C |
6: 6,152,525 (GRCm39) |
|
probably null |
Het |
| Slc35f5 |
A |
G |
1: 125,498,330 (GRCm39) |
E176G |
possibly damaging |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Tenm4 |
G |
A |
7: 96,552,096 (GRCm39) |
V2512M |
probably damaging |
Het |
| Tmc8 |
A |
G |
11: 117,682,188 (GRCm39) |
|
probably null |
Het |
| Trim30d |
C |
T |
7: 104,133,389 (GRCm39) |
W21* |
probably null |
Het |
| Ube3c |
G |
A |
5: 29,806,200 (GRCm39) |
V281I |
probably benign |
Het |
| Usp17ld |
T |
C |
7: 102,899,783 (GRCm39) |
K383R |
probably benign |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,529 (GRCm39) |
Y138F |
probably damaging |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,395 (GRCm39) |
V186A |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,828,754 (GRCm39) |
|
probably null |
Het |
| Vmn2r61 |
T |
C |
7: 41,949,935 (GRCm39) |
F785S |
probably damaging |
Het |
| Zfp141 |
T |
A |
7: 42,125,470 (GRCm39) |
Y334F |
probably benign |
Het |
| Zfp609 |
T |
C |
9: 65,638,282 (GRCm39) |
I317V |
probably benign |
Het |
| Zfp879 |
A |
G |
11: 50,724,060 (GRCm39) |
I259T |
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 |
|
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 |
|
R4615:Itprid2
|
UTSW |
2 |
79,492,726 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- AGACCGAGGATCTGTCCACAGAG -3'
(R):5'- CCACAGCACTTCCAGTTCTAATCGC -3'
Sequencing Primer
(F):5'- cgacgacgcaggacgag -3'
(R):5'- CGCTTCTAGAAGGAAGCTATCG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation