Incidental Mutation 'IGL02445:Itprid2'
| ID |
293567 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Itprid2
|
| Ensembl Gene |
ENSMUSG00000027007 |
| Gene Name |
ITPR interacting domain containing 2 |
| Synonyms |
Ssfa2, CS1, CS-1, SPAG13, KRAP |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.493)
|
| Stock # |
IGL02445
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
79465696-79503310 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79487842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 642
(E642K)
|
| 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: E642K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107414
Gene: ENSMUSG00000027007
AA Change: E642K
| 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: E642K
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107415
Gene: ENSMUSG00000027007
AA Change: E642K
| 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: E642K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107418
Gene: ENSMUSG00000027007
AA Change: E642K
| 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 |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
C |
T |
5: 114,383,198 (GRCm39) |
T2127M |
probably damaging |
Het |
| Acp2 |
A |
G |
2: 91,036,606 (GRCm39) |
D175G |
possibly damaging |
Het |
| Adamts12 |
T |
C |
15: 11,286,798 (GRCm39) |
L801P |
probably damaging |
Het |
| Adcy10 |
T |
G |
1: 165,398,313 (GRCm39) |
V1470G |
possibly damaging |
Het |
| Ankar |
T |
G |
1: 72,705,524 (GRCm39) |
K829Q |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,274,318 (GRCm39) |
Y531C |
probably benign |
Het |
| Atm |
T |
C |
9: 53,365,630 (GRCm39) |
I2590V |
probably benign |
Het |
| Brme1 |
T |
A |
8: 84,886,137 (GRCm39) |
M31K |
probably benign |
Het |
| Cblb |
T |
C |
16: 51,986,668 (GRCm39) |
L485P |
probably damaging |
Het |
| Col4a1 |
T |
C |
8: 11,283,911 (GRCm39) |
|
probably benign |
Het |
| Coprs |
T |
C |
8: 13,935,797 (GRCm39) |
K74R |
possibly damaging |
Het |
| Cul3 |
A |
T |
1: 80,281,886 (GRCm39) |
L31M |
possibly damaging |
Het |
| Cyp3a59 |
C |
A |
5: 146,033,463 (GRCm39) |
Q200K |
probably benign |
Het |
| Ddx19b |
C |
A |
8: 111,735,456 (GRCm39) |
V402L |
probably damaging |
Het |
| Disc1 |
T |
A |
8: 125,875,142 (GRCm39) |
|
probably benign |
Het |
| Dsg4 |
C |
T |
18: 20,579,307 (GRCm39) |
|
probably benign |
Het |
| Dspp |
A |
C |
5: 104,324,963 (GRCm39) |
Y442S |
probably damaging |
Het |
| Dtl |
C |
T |
1: 191,290,172 (GRCm39) |
|
probably null |
Het |
| Ezh1 |
A |
C |
11: 101,101,513 (GRCm39) |
V175G |
possibly damaging |
Het |
| Hepacam2 |
C |
T |
6: 3,483,481 (GRCm39) |
G100D |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,340,764 (GRCm39) |
H1704Q |
possibly damaging |
Het |
| Kif26a |
T |
C |
12: 112,140,177 (GRCm39) |
S469P |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,242 (GRCm39) |
M270T |
probably benign |
Het |
| Nap1l3 |
A |
T |
X: 121,305,752 (GRCm39) |
V322D |
probably damaging |
Het |
| Ndufv2 |
A |
G |
17: 66,387,889 (GRCm39) |
|
probably benign |
Het |
| Or14j5 |
A |
T |
17: 38,162,008 (GRCm39) |
H175L |
probably damaging |
Het |
| Or4p18 |
G |
A |
2: 88,232,456 (GRCm39) |
T274I |
possibly damaging |
Het |
| Or8b55 |
T |
C |
9: 38,726,901 (GRCm39) |
I34T |
possibly damaging |
Het |
| Otol1 |
A |
T |
3: 69,935,367 (GRCm39) |
D453V |
probably damaging |
Het |
| Papolb |
G |
A |
5: 142,514,480 (GRCm39) |
H388Y |
probably benign |
Het |
| Ppp1r10 |
A |
G |
17: 36,237,094 (GRCm39) |
E128G |
probably damaging |
Het |
| Prss12 |
T |
A |
3: 123,280,669 (GRCm39) |
D451E |
probably damaging |
Het |
| Psmc1 |
T |
C |
12: 100,081,087 (GRCm39) |
|
probably benign |
Het |
| Pygo1 |
T |
A |
9: 72,833,222 (GRCm39) |
I10N |
probably benign |
Het |
| Rab31 |
C |
T |
17: 66,028,998 (GRCm39) |
|
probably null |
Het |
| Ret |
G |
A |
6: 118,158,860 (GRCm39) |
T184I |
probably damaging |
Het |
| Rhd |
A |
T |
4: 134,611,481 (GRCm39) |
M214L |
possibly damaging |
Het |
| Ripor3 |
C |
A |
2: 167,834,682 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,312,052 (GRCm39) |
L2036P |
probably benign |
Het |
| Slc26a3 |
C |
A |
12: 31,507,051 (GRCm39) |
D335E |
possibly damaging |
Het |
| Taf6 |
A |
G |
5: 138,182,756 (GRCm39) |
|
probably benign |
Het |
| Tnk2 |
T |
C |
16: 32,494,408 (GRCm39) |
V442A |
probably benign |
Het |
| Virma |
A |
G |
4: 11,527,029 (GRCm39) |
M1143V |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,452,848 (GRCm39) |
R522* |
probably null |
Het |
| Vmn2r-ps129 |
A |
G |
17: 23,227,393 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp473 |
A |
G |
7: 44,383,107 (GRCm39) |
C408R |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation