Incidental Mutation 'R4730:Grip2'
| ID |
358751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grip2
|
| Ensembl Gene |
ENSMUSG00000030098 |
| Gene Name |
glutamate receptor interacting protein 2 |
| Synonyms |
|
| MMRRC Submission |
041990-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4730 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
91738490-91804231 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 91762693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 175
(*175W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159684]
[ENSMUST00000161566]
[ENSMUST00000162293]
[ENSMUST00000162300]
|
| AlphaFold |
G3XA20 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159684
AA Change: T184A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125047
Gene: ENSMUSG00000030098
AA Change: T184A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
|
PDZ
|
62 |
136 |
1.12e-12 |
SMART |
|
PDZ
|
161 |
239 |
3.8e-15 |
SMART |
|
PDZ
|
262 |
337 |
7.9e-13 |
SMART |
|
low complexity region
|
385 |
390 |
N/A |
INTRINSIC |
|
PDZ
|
426 |
506 |
2.18e-15 |
SMART |
|
PDZ
|
527 |
602 |
3.86e-16 |
SMART |
|
PDZ
|
625 |
699 |
1.38e-17 |
SMART |
|
low complexity region
|
778 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
878 |
N/A |
INTRINSIC |
|
PDZ
|
910 |
982 |
2.95e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161545
|
| SMART Domains |
Protein: ENSMUSP00000125538
Gene: ENSMUSG00000030098
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
PDB:2QT5|B
|
42 |
89 |
3e-9 |
PDB |
|
SCOP:d1lcya1
|
47 |
89 |
2e-7 |
SMART |
|
low complexity region
|
103 |
119 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161566
AA Change: *175W
|
| SMART Domains |
Protein: ENSMUSP00000123941
Gene: ENSMUSG00000030098
AA Change: *175W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
|
PDZ
|
62 |
136 |
9.96e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162293
AA Change: T132A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124717
Gene: ENSMUSG00000030098
AA Change: T132A
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
10 |
84 |
1.12e-12 |
SMART |
|
PDZ
|
109 |
187 |
3.8e-15 |
SMART |
|
PDZ
|
210 |
285 |
7.9e-13 |
SMART |
|
low complexity region
|
336 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
379 |
N/A |
INTRINSIC |
|
PDZ
|
415 |
495 |
2.18e-15 |
SMART |
|
PDZ
|
516 |
591 |
3.86e-16 |
SMART |
|
PDZ
|
614 |
688 |
1.38e-17 |
SMART |
|
low complexity region
|
767 |
782 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162300
AA Change: T184A
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124709
Gene: ENSMUSG00000030098
AA Change: T184A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
|
PDZ
|
62 |
136 |
1.12e-12 |
SMART |
|
PDZ
|
161 |
239 |
3.8e-15 |
SMART |
|
PDZ
|
262 |
337 |
7.9e-13 |
SMART |
|
low complexity region
|
388 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
431 |
N/A |
INTRINSIC |
|
PDZ
|
467 |
547 |
2.18e-15 |
SMART |
|
PDZ
|
568 |
643 |
3.86e-16 |
SMART |
|
PDZ
|
666 |
740 |
1.38e-17 |
SMART |
|
low complexity region
|
819 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
908 |
919 |
N/A |
INTRINSIC |
|
PDZ
|
951 |
1023 |
2.95e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
99% (70/71) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mice are born in numbers expected by the Mendelian ratio and show no overt phenotype. [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 |
|---|
| Aff1 |
A |
G |
5: 103,990,939 (GRCm39) |
Q963R |
possibly damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,114,650 (GRCm39) |
E645K |
probably benign |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Col4a2 |
A |
G |
8: 11,487,590 (GRCm39) |
N964S |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Duox1 |
T |
G |
2: 122,164,312 (GRCm39) |
L924R |
probably damaging |
Het |
| Edem2 |
T |
C |
2: 155,547,618 (GRCm39) |
E398G |
possibly damaging |
Het |
| Engase |
A |
G |
11: 118,373,748 (GRCm39) |
N297D |
probably damaging |
Het |
| Esp4 |
A |
C |
17: 40,913,445 (GRCm39) |
Y104S |
unknown |
Het |
| Esp4 |
C |
A |
17: 40,913,446 (GRCm39) |
Y104* |
probably null |
Het |
| Fat1 |
A |
T |
8: 45,486,514 (GRCm39) |
N3356I |
probably damaging |
Het |
| Gm3867 |
T |
A |
9: 36,168,550 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6818 |
C |
T |
7: 38,101,918 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy1b2 |
A |
G |
14: 62,645,208 (GRCm39) |
V617A |
probably damaging |
Het |
| Gzmc |
C |
T |
14: 56,469,089 (GRCm39) |
C210Y |
probably damaging |
Het |
| Hmg20a |
T |
A |
9: 56,374,703 (GRCm39) |
S20T |
possibly damaging |
Het |
| Hs3st1 |
A |
T |
5: 39,772,148 (GRCm39) |
L165* |
probably null |
Het |
| Ighv1-26 |
A |
G |
12: 114,752,409 (GRCm39) |
I6T |
probably benign |
Het |
| Kcnk13 |
A |
G |
12: 100,027,974 (GRCm39) |
K350E |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,493,416 (GRCm39) |
L198* |
probably null |
Het |
| Lrfn5 |
C |
T |
12: 61,887,505 (GRCm39) |
A431V |
probably benign |
Het |
| Lta |
C |
T |
17: 35,423,065 (GRCm39) |
R86Q |
probably benign |
Het |
| Map3k4 |
T |
A |
17: 12,467,861 (GRCm39) |
I1058L |
probably damaging |
Het |
| Mtif2 |
T |
A |
11: 29,490,834 (GRCm39) |
S513T |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,570,032 (GRCm39) |
T364I |
possibly damaging |
Het |
| Nav1 |
C |
A |
1: 135,535,049 (GRCm39) |
|
probably benign |
Het |
| Nfrkb |
T |
C |
9: 31,321,547 (GRCm39) |
V748A |
probably benign |
Het |
| Obox6 |
A |
T |
7: 15,568,738 (GRCm39) |
M46K |
possibly damaging |
Het |
| Or5g25 |
T |
C |
2: 85,478,336 (GRCm39) |
T110A |
probably benign |
Het |
| Or5k1b |
T |
C |
16: 58,581,105 (GRCm39) |
I145V |
probably benign |
Het |
| Or5t17 |
C |
T |
2: 86,832,510 (GRCm39) |
R66W |
possibly damaging |
Het |
| Or6c33 |
G |
A |
10: 129,853,416 (GRCm39) |
R62Q |
probably damaging |
Het |
| Or9g19 |
G |
T |
2: 85,600,405 (GRCm39) |
E87* |
probably null |
Het |
| P4htm |
A |
G |
9: 108,456,971 (GRCm39) |
V412A |
possibly damaging |
Het |
| Phb2 |
T |
C |
6: 124,690,086 (GRCm39) |
S92P |
probably damaging |
Het |
| Phtf1 |
G |
T |
3: 103,894,751 (GRCm39) |
R147L |
probably damaging |
Het |
| Pigk |
C |
T |
3: 152,448,203 (GRCm39) |
Q189* |
probably null |
Het |
| Plxnc1 |
G |
A |
10: 94,703,330 (GRCm39) |
|
probably benign |
Het |
| Prrx1 |
A |
G |
1: 163,140,182 (GRCm39) |
V8A |
probably benign |
Het |
| Ptprg |
G |
A |
14: 12,213,713 (GRCm38) |
G252D |
probably damaging |
Het |
| Rnf4 |
G |
T |
5: 34,508,147 (GRCm39) |
V134F |
possibly damaging |
Het |
| Scarf2 |
A |
G |
16: 17,620,877 (GRCm39) |
T182A |
probably damaging |
Het |
| Setd1a |
A |
G |
7: 127,396,502 (GRCm39) |
|
probably benign |
Het |
| Sgpp1 |
A |
G |
12: 75,781,713 (GRCm39) |
F209L |
probably benign |
Het |
| Sh3d19 |
T |
A |
3: 86,024,171 (GRCm39) |
S567T |
possibly damaging |
Het |
| Slc4a2 |
C |
T |
5: 24,639,878 (GRCm39) |
R520W |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,194,751 (GRCm39) |
Q858R |
probably damaging |
Het |
| Slitrk3 |
G |
T |
3: 72,956,852 (GRCm39) |
A640E |
probably benign |
Het |
| Smarca2 |
A |
G |
19: 26,608,073 (GRCm39) |
Y44C |
probably damaging |
Het |
| Spon1 |
A |
G |
7: 113,632,306 (GRCm39) |
E543G |
possibly damaging |
Het |
| Strn4 |
A |
G |
7: 16,562,719 (GRCm39) |
Q286R |
possibly damaging |
Het |
| Suz12 |
T |
C |
11: 79,892,988 (GRCm39) |
|
probably benign |
Het |
| Syna |
T |
A |
5: 134,587,440 (GRCm39) |
E503V |
probably damaging |
Het |
| Syt14 |
C |
T |
1: 192,613,094 (GRCm39) |
D569N |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,030,457 (GRCm39) |
|
probably benign |
Het |
| Tmprss11g |
G |
T |
5: 86,637,091 (GRCm39) |
S335* |
probably null |
Het |
| Tmprss11g |
A |
T |
5: 86,637,092 (GRCm39) |
S335T |
probably damaging |
Het |
| Trim66 |
A |
G |
7: 109,082,276 (GRCm39) |
S226P |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,707,654 (GRCm39) |
T112A |
probably benign |
Het |
| Ulk4 |
T |
C |
9: 121,092,791 (GRCm39) |
S149G |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,756,582 (GRCm39) |
D108G |
probably null |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,695 (GRCm39) |
T205S |
possibly damaging |
Het |
|
| Other mutations in Grip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01141:Grip2
|
APN |
6 |
91,759,878 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01748:Grip2
|
APN |
6 |
91,741,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01838:Grip2
|
APN |
6 |
91,741,744 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02392:Grip2
|
APN |
6 |
91,764,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02620:Grip2
|
APN |
6 |
91,755,587 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02862:Grip2
|
APN |
6 |
91,765,085 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03027:Grip2
|
APN |
6 |
91,755,852 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03180:Grip2
|
APN |
6 |
91,762,742 (GRCm39) |
splice site |
probably benign |
|
|
R0265:Grip2
|
UTSW |
6 |
91,750,773 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0448:Grip2
|
UTSW |
6 |
91,756,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0597:Grip2
|
UTSW |
6 |
91,773,178 (GRCm39) |
intron |
probably benign |
|
|
R1405:Grip2
|
UTSW |
6 |
91,765,133 (GRCm39) |
splice site |
probably null |
|
|
R1405:Grip2
|
UTSW |
6 |
91,765,133 (GRCm39) |
splice site |
probably null |
|
|
R1466:Grip2
|
UTSW |
6 |
91,765,424 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1466:Grip2
|
UTSW |
6 |
91,765,424 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1664:Grip2
|
UTSW |
6 |
91,742,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1703:Grip2
|
UTSW |
6 |
91,754,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Grip2
|
UTSW |
6 |
91,760,623 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1951:Grip2
|
UTSW |
6 |
91,760,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2001:Grip2
|
UTSW |
6 |
91,756,831 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4754:Grip2
|
UTSW |
6 |
91,756,173 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4754:Grip2
|
UTSW |
6 |
91,756,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4773:Grip2
|
UTSW |
6 |
91,759,413 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5135:Grip2
|
UTSW |
6 |
91,750,897 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5213:Grip2
|
UTSW |
6 |
91,756,812 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5972:Grip2
|
UTSW |
6 |
91,784,262 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6176:Grip2
|
UTSW |
6 |
91,756,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6188:Grip2
|
UTSW |
6 |
91,740,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6289:Grip2
|
UTSW |
6 |
91,755,852 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6345:Grip2
|
UTSW |
6 |
91,742,369 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6348:Grip2
|
UTSW |
6 |
91,757,419 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6394:Grip2
|
UTSW |
6 |
91,764,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6658:Grip2
|
UTSW |
6 |
91,763,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7065:Grip2
|
UTSW |
6 |
91,760,550 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7074:Grip2
|
UTSW |
6 |
91,761,689 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7308:Grip2
|
UTSW |
6 |
91,755,669 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7607:Grip2
|
UTSW |
6 |
91,765,393 (GRCm39) |
missense |
probably benign |
|
|
R7617:Grip2
|
UTSW |
6 |
91,742,031 (GRCm39) |
splice site |
probably null |
|
|
R7970:Grip2
|
UTSW |
6 |
91,763,513 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8221:Grip2
|
UTSW |
6 |
91,762,665 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8549:Grip2
|
UTSW |
6 |
91,750,769 (GRCm39) |
splice site |
probably null |
|
|
R8838:Grip2
|
UTSW |
6 |
91,762,721 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8962:Grip2
|
UTSW |
6 |
91,754,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9430:Grip2
|
UTSW |
6 |
91,784,265 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9699:Grip2
|
UTSW |
6 |
91,742,318 (GRCm39) |
missense |
probably benign |
|
|
R9732:Grip2
|
UTSW |
6 |
91,761,686 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF003:Grip2
|
UTSW |
6 |
91,760,574 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Grip2
|
UTSW |
6 |
91,740,491 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCTGAGGCCTCTCTTAGC -3'
(R):5'- GACCAAGAGAGGATTTGCATTG -3'
Sequencing Primer
(F):5'- ATCCATTCTCTGAGGGCATG -3'
(R):5'- CCAAGAGAGGATTTGCATTGTGTTTC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation