Incidental Mutation 'R7075:Itprid2'
| ID |
549141 |
| 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 |
045170-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.493)
|
| Stock # |
R7075 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
79465696-79503310 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79466004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 41
(S41T)
|
| 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: S41T
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107414
Gene: ENSMUSG00000027007
AA Change: S41T
| 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: S41T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107415
Gene: ENSMUSG00000027007
AA Change: S41T
| 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 |
possibly damaging
Transcript: ENSMUST00000111788
AA Change: S41T
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107418
Gene: ENSMUSG00000027007
AA Change: S41T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
95% (60/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp1 |
A |
T |
12: 85,325,782 (GRCm39) |
H72Q |
unknown |
Het |
| Afmid |
T |
A |
11: 117,726,531 (GRCm39) |
D218E |
probably benign |
Het |
| Ankhd1 |
T |
C |
18: 36,693,042 (GRCm39) |
V1A |
|
Het |
| Atf7ip |
T |
C |
6: 136,573,513 (GRCm39) |
|
probably null |
Het |
| BC024139 |
C |
T |
15: 76,008,599 (GRCm39) |
V326I |
probably benign |
Het |
| Bfsp1 |
T |
A |
2: 143,690,885 (GRCm39) |
Q159L |
probably damaging |
Het |
| Cct2 |
A |
T |
10: 116,897,370 (GRCm39) |
W125R |
unknown |
Het |
| Cnksr3 |
G |
T |
10: 7,102,931 (GRCm39) |
T147K |
probably benign |
Het |
| Colq |
C |
G |
14: 31,274,866 (GRCm39) |
G101R |
probably damaging |
Het |
| Dlg5 |
G |
T |
14: 24,227,865 (GRCm39) |
T352K |
possibly damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Ebna1bp2 |
T |
C |
4: 118,479,299 (GRCm39) |
V119A |
probably benign |
Het |
| Eif2ak4 |
C |
T |
2: 118,251,291 (GRCm39) |
Q318* |
probably null |
Het |
| Eif2b1 |
G |
A |
5: 124,709,314 (GRCm39) |
T286M |
probably damaging |
Het |
| Fam53b |
G |
T |
7: 132,361,352 (GRCm39) |
D225E |
probably damaging |
Het |
| Fh1 |
A |
G |
1: 175,435,421 (GRCm39) |
I354T |
probably benign |
Het |
| Fnbp1 |
T |
C |
2: 30,948,926 (GRCm39) |
H206R |
probably benign |
Het |
| Gabrg3 |
A |
T |
7: 56,973,444 (GRCm39) |
D74E |
probably damaging |
Het |
| Galnt18 |
A |
T |
7: 111,155,595 (GRCm39) |
V246E |
possibly damaging |
Het |
| Glt6d1 |
T |
C |
2: 25,685,292 (GRCm39) |
R44G |
probably benign |
Het |
| Gm17087 |
T |
C |
17: 8,785,635 (GRCm39) |
M23V |
probably benign |
Het |
| Gpr160 |
A |
T |
3: 30,950,926 (GRCm39) |
I333L |
possibly damaging |
Het |
| Hars1 |
T |
C |
18: 36,905,408 (GRCm39) |
N142S |
possibly damaging |
Het |
| Hmgcll1 |
T |
C |
9: 75,963,834 (GRCm39) |
V97A |
possibly damaging |
Het |
| Itih4 |
T |
G |
14: 30,614,560 (GRCm39) |
V474G |
probably damaging |
Het |
| Keap1 |
C |
T |
9: 21,142,552 (GRCm39) |
V568I |
probably benign |
Het |
| Kifc5b |
A |
G |
17: 27,144,872 (GRCm39) |
M633V |
probably benign |
Het |
| Lsm4 |
A |
G |
8: 71,130,435 (GRCm39) |
E18G |
probably damaging |
Het |
| Meox1 |
T |
A |
11: 101,784,569 (GRCm39) |
Q88L |
probably damaging |
Het |
| Mettl25 |
T |
C |
10: 105,665,785 (GRCm39) |
N147S |
possibly damaging |
Het |
| Mphosph9 |
A |
C |
5: 124,458,922 (GRCm39) |
W83G |
probably damaging |
Het |
| Or1j15 |
T |
C |
2: 36,459,192 (GRCm39) |
I194T |
probably benign |
Het |
| Or5ak22 |
T |
C |
2: 85,230,544 (GRCm39) |
D111G |
probably damaging |
Het |
| Or7e170 |
T |
A |
9: 19,795,359 (GRCm39) |
M81L |
probably benign |
Het |
| Or8b4 |
T |
C |
9: 37,830,370 (GRCm39) |
V139A |
probably benign |
Het |
| Or8h8 |
T |
G |
2: 86,752,990 (GRCm39) |
K295N |
possibly damaging |
Het |
| Or9g4 |
T |
A |
2: 85,505,168 (GRCm39) |
Y109F |
|
Het |
| Otogl |
G |
T |
10: 107,614,790 (GRCm39) |
T1954K |
probably benign |
Het |
| Padi2 |
T |
C |
4: 140,660,528 (GRCm39) |
V336A |
probably damaging |
Het |
| Phf21a |
C |
T |
2: 92,190,724 (GRCm39) |
Q675* |
probably null |
Het |
| Ppip5k1 |
T |
C |
2: 121,152,231 (GRCm39) |
E1092G |
probably damaging |
Het |
| Psg21 |
T |
C |
7: 18,388,786 (GRCm39) |
N102S |
probably damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,867,508 (GRCm39) |
Q15H |
possibly damaging |
Het |
| Rbm26 |
A |
T |
14: 105,398,043 (GRCm39) |
D26E |
unknown |
Het |
| Rbp4 |
T |
C |
19: 38,112,509 (GRCm39) |
Y152C |
probably damaging |
Het |
| Recql4 |
A |
G |
15: 76,590,624 (GRCm39) |
V646A |
possibly damaging |
Het |
| Rnf220 |
A |
T |
4: 117,143,079 (GRCm39) |
M63K |
probably benign |
Het |
| Selenok |
T |
C |
14: 29,692,024 (GRCm39) |
S21P |
probably damaging |
Het |
| Senp1 |
A |
G |
15: 97,956,207 (GRCm39) |
V404A |
probably benign |
Het |
| Sh3yl1 |
A |
G |
12: 30,990,165 (GRCm39) |
|
probably null |
Het |
| Snx32 |
A |
G |
19: 5,547,018 (GRCm39) |
L275P |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,770,519 (GRCm39) |
V519A |
possibly damaging |
Het |
| Tbc1d10b |
A |
T |
7: 126,802,410 (GRCm39) |
V388E |
possibly damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,936,065 (GRCm39) |
V1661A |
probably benign |
Het |
| Tmem63a |
T |
A |
1: 180,788,714 (GRCm39) |
F350L |
probably damaging |
Het |
| Trio |
A |
T |
15: 27,898,086 (GRCm39) |
I401K |
unknown |
Het |
| Ttn |
T |
C |
2: 76,547,173 (GRCm39) |
E32291G |
probably damaging |
Het |
| Tubgcp5 |
G |
T |
7: 55,479,155 (GRCm39) |
V1002L |
probably benign |
Het |
| Vav3 |
C |
T |
3: 109,433,240 (GRCm39) |
T410I |
possibly damaging |
Het |
| Vmn1r1 |
A |
T |
1: 181,985,597 (GRCm39) |
F23I |
probably benign |
Het |
| Vmn2r84 |
T |
A |
10: 130,226,941 (GRCm39) |
Q299L |
probably damaging |
Het |
| Vmn2r85 |
T |
A |
10: 130,258,557 (GRCm39) |
E499D |
probably benign |
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 |
|
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 |
|
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'- AGGCTGGACTGTGCATTAGC -3'
(R):5'- GCGCGCATTTAAAGTTCGG -3'
Sequencing Primer
(F):5'- TCTTAGAGTAGGCGGGACC -3'
(R):5'- CATTTAAAGTTCGGGGGCGTCC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation