Incidental Mutation 'R8155:Itprid2'
| ID |
633242 |
| 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 |
067581-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.550)
|
| Stock # |
R8155 (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 C
at 79475177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 379
(S379P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107415
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111784]
[ENSMUST00000111785]
[ENSMUST00000111788]
|
| AlphaFold |
Q922B9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111784
AA Change: S379P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000107414
Gene: ENSMUSG00000027007
AA Change: S379P
| 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 benign
Transcript: ENSMUST00000111785
AA Change: S379P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000107415
Gene: ENSMUSG00000027007
AA Change: S379P
| 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 benign
Transcript: ENSMUST00000111788
AA Change: S379P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000107418
Gene: ENSMUSG00000027007
AA Change: S379P
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
| Validation Efficiency |
100% (62/62) |
| 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 |
|---|
| Abca12 |
G |
A |
1: 71,330,497 (GRCm39) |
T1386I |
probably damaging |
Het |
| Abcb6 |
A |
T |
1: 75,151,413 (GRCm39) |
V504E |
probably damaging |
Het |
| Abtb3 |
G |
A |
10: 85,476,473 (GRCm39) |
|
probably null |
Het |
| Adprhl1 |
C |
T |
8: 13,271,764 (GRCm39) |
A1665T |
probably damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,093,196 (GRCm39) |
L183H |
probably damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,953,958 (GRCm39) |
L24S |
probably damaging |
Het |
| B3gnt4 |
C |
T |
5: 123,649,426 (GRCm39) |
H264Y |
possibly damaging |
Het |
| Cfi |
A |
G |
3: 129,648,739 (GRCm39) |
T208A |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,082,287 (GRCm39) |
F605Y |
probably benign |
Het |
| Cimap1d |
A |
T |
10: 79,481,466 (GRCm39) |
V21E |
probably benign |
Het |
| Clip1 |
A |
G |
5: 123,751,699 (GRCm39) |
L694P |
|
Het |
| Crybb3 |
A |
T |
5: 113,225,466 (GRCm39) |
D135E |
probably damaging |
Het |
| Ddx60 |
T |
A |
8: 62,470,205 (GRCm39) |
S1398T |
possibly damaging |
Het |
| Dusp5 |
T |
A |
19: 53,529,537 (GRCm39) |
Y313* |
probably null |
Het |
| Eloa |
A |
G |
4: 135,734,438 (GRCm39) |
V689A |
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,505,269 (GRCm39) |
Y630N |
unknown |
Het |
| Galnt5 |
A |
T |
2: 57,889,427 (GRCm39) |
K342N |
probably benign |
Het |
| Gm4841 |
A |
G |
18: 60,403,409 (GRCm39) |
V228A |
probably damaging |
Het |
| Gna14 |
A |
T |
19: 16,576,338 (GRCm39) |
D115V |
probably benign |
Het |
| Gpx5 |
T |
C |
13: 21,472,917 (GRCm39) |
D139G |
probably damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,480,705 (GRCm39) |
N4490K |
probably damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,661,828 (GRCm39) |
S63G |
unknown |
Het |
| Itpkb |
T |
C |
1: 180,159,913 (GRCm39) |
I13T |
possibly damaging |
Het |
| Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
| Ldha |
A |
G |
7: 46,503,508 (GRCm39) |
H300R |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,313,342 (GRCm39) |
L2463P |
possibly damaging |
Het |
| Morf4l1 |
A |
G |
9: 89,977,225 (GRCm39) |
I232T |
probably damaging |
Het |
| Mtg1 |
A |
G |
7: 139,724,622 (GRCm39) |
H166R |
probably benign |
Het |
| Or14a260 |
A |
G |
7: 85,985,386 (GRCm39) |
S73P |
probably damaging |
Het |
| Or2ad1 |
A |
G |
13: 21,327,062 (GRCm39) |
L55P |
probably damaging |
Het |
| Or52r1 |
C |
T |
7: 102,536,452 (GRCm39) |
D303N |
probably benign |
Het |
| Or5d46 |
A |
G |
2: 88,170,296 (GRCm39) |
N129S |
probably damaging |
Het |
| Or6d12 |
T |
A |
6: 116,492,813 (GRCm39) |
V25E |
probably benign |
Het |
| Or7g32 |
A |
T |
9: 19,389,453 (GRCm39) |
V31D |
probably benign |
Het |
| Papss2 |
A |
G |
19: 32,618,742 (GRCm39) |
T267A |
probably benign |
Het |
| Park7 |
G |
A |
4: 150,991,547 (GRCm39) |
R48C |
possibly damaging |
Het |
| Pecr |
A |
G |
1: 72,309,443 (GRCm39) |
V199A |
probably damaging |
Het |
| Pla2g10 |
G |
A |
16: 13,543,048 (GRCm39) |
R80W |
probably damaging |
Het |
| Plek2 |
G |
A |
12: 78,943,066 (GRCm39) |
R77* |
probably null |
Het |
| Psg23 |
A |
G |
7: 18,346,179 (GRCm39) |
L172P |
probably damaging |
Het |
| Psg25 |
A |
C |
7: 18,260,445 (GRCm39) |
F151C |
probably benign |
Het |
| Ptpn3 |
G |
T |
4: 57,232,336 (GRCm39) |
H433Q |
probably benign |
Het |
| Rasal3 |
A |
G |
17: 32,616,381 (GRCm39) |
V294A |
possibly damaging |
Het |
| Rnf6 |
T |
C |
5: 146,147,815 (GRCm39) |
D401G |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Sema3d |
T |
C |
5: 12,498,148 (GRCm39) |
|
probably null |
Het |
| Serpinb1c |
A |
T |
13: 33,081,038 (GRCm39) |
L15Q |
probably damaging |
Het |
| Slfn3 |
T |
A |
11: 83,103,611 (GRCm39) |
Y161N |
probably damaging |
Het |
| Spns2 |
T |
C |
11: 72,347,394 (GRCm39) |
M404V |
possibly damaging |
Het |
| Stk39 |
T |
A |
2: 68,097,410 (GRCm39) |
I479L |
probably damaging |
Het |
| Tbx15 |
C |
A |
3: 99,259,886 (GRCm39) |
Q586K |
possibly damaging |
Het |
| Thap11 |
C |
T |
8: 106,582,854 (GRCm39) |
R288* |
probably null |
Het |
| Tm7sf2 |
T |
A |
19: 6,114,125 (GRCm39) |
D236V |
probably damaging |
Het |
| Tmem214 |
T |
C |
5: 31,029,136 (GRCm39) |
S192P |
possibly damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,880,439 (GRCm39) |
S543P |
possibly damaging |
Het |
| Traf3ip3 |
A |
G |
1: 192,860,524 (GRCm39) |
L466P |
probably damaging |
Het |
| Tspan18 |
C |
T |
2: 93,040,357 (GRCm39) |
|
probably null |
Het |
| Vmn1r229 |
T |
A |
17: 21,035,472 (GRCm39) |
L239Q |
probably damaging |
Het |
| Vsig2 |
T |
C |
9: 37,455,329 (GRCm39) |
V293A |
possibly damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,884,776 (GRCm39) |
V42D |
|
Het |
| Wnk2 |
G |
A |
13: 49,192,577 (GRCm39) |
P2055S |
unknown |
Het |
| Zfp953 |
C |
A |
13: 67,491,535 (GRCm39) |
C139F |
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 |
|
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 |
|
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 |
|
|
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'- TGCAAACCGTCTGATGAAAAC -3'
(R):5'- GGCACTTTTCAGCTCACTGC -3'
Sequencing Primer
(F):5'- AGGAGAAGGGGGCTCTTCC -3'
(R):5'- GCTCACTGCTGCTCTCCAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation