Incidental Mutation 'R6658:Grip2'
| ID |
526715 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grip2
|
| Ensembl Gene |
ENSMUSG00000030098 |
| Gene Name |
glutamate receptor interacting protein 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6658 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
91738490-91804231 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91763472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 109
(N109Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159684]
[ENSMUST00000161566]
[ENSMUST00000162293]
[ENSMUST00000162300]
|
| AlphaFold |
G3XA20 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159684
AA Change: N161Y
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125047
Gene: ENSMUSG00000030098
AA Change: N161Y
| 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 |
silent
Transcript: ENSMUST00000161566
|
| SMART Domains |
Protein: ENSMUSP00000123941
Gene: ENSMUSG00000030098
| 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: N109Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124717
Gene: ENSMUSG00000030098
AA Change: N109Y
| 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 |
probably damaging
Transcript: ENSMUST00000162300
AA Change: N161Y
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124709
Gene: ENSMUSG00000030098
AA Change: N161Y
| 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 |
0.1131 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
96% (53/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
G |
9: 90,077,353 (GRCm39) |
N1340S |
probably damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Antxr1 |
C |
A |
6: 87,261,291 (GRCm39) |
R167L |
probably damaging |
Het |
| BC107364 |
T |
C |
3: 96,348,026 (GRCm39) |
S88G |
unknown |
Het |
| Cfap100 |
T |
G |
6: 90,390,400 (GRCm39) |
E80A |
probably damaging |
Het |
| Dhx8 |
C |
A |
11: 101,655,748 (GRCm39) |
H1107Q |
probably damaging |
Het |
| Dip2c |
G |
A |
13: 9,543,213 (GRCm39) |
|
probably null |
Het |
| Dpep2 |
A |
T |
8: 106,716,542 (GRCm39) |
D212E |
probably benign |
Het |
| Dpep3 |
T |
C |
8: 106,705,728 (GRCm39) |
T66A |
probably benign |
Het |
| Fat4 |
G |
T |
3: 38,997,077 (GRCm39) |
M1765I |
probably benign |
Het |
| Gbgt1 |
G |
A |
2: 28,394,998 (GRCm39) |
R212H |
probably benign |
Het |
| Gimap4 |
T |
C |
6: 48,668,338 (GRCm39) |
S215P |
possibly damaging |
Het |
| Gpr161 |
A |
T |
1: 165,134,136 (GRCm39) |
T133S |
possibly damaging |
Het |
| Grin2c |
G |
T |
11: 115,149,108 (GRCm39) |
S163R |
possibly damaging |
Het |
| H60c |
G |
A |
10: 3,210,270 (GRCm39) |
T93I |
possibly damaging |
Het |
| Hmgcl |
A |
G |
4: 135,682,962 (GRCm39) |
N138S |
probably damaging |
Het |
| Hoxa3 |
G |
T |
6: 52,147,058 (GRCm39) |
Y398* |
probably null |
Het |
| Igkv1-132 |
A |
G |
6: 67,737,091 (GRCm39) |
N19S |
probably benign |
Het |
| Ikbip |
A |
G |
10: 90,932,181 (GRCm39) |
N275S |
probably benign |
Het |
| Il7 |
T |
A |
3: 7,642,239 (GRCm39) |
T33S |
probably benign |
Het |
| Iqgap2 |
A |
T |
13: 95,796,840 (GRCm39) |
Y1105N |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,148,281 (GRCm39) |
D934G |
possibly damaging |
Het |
| Mroh4 |
T |
C |
15: 74,492,978 (GRCm39) |
Q310R |
possibly damaging |
Het |
| Mtmr14 |
C |
A |
6: 113,242,437 (GRCm39) |
Y22* |
probably null |
Het |
| Muc5b |
G |
T |
7: 141,422,244 (GRCm39) |
|
probably null |
Het |
| Naga |
T |
G |
15: 82,214,975 (GRCm39) |
K328Q |
probably benign |
Het |
| Neo1 |
G |
A |
9: 58,829,132 (GRCm39) |
T589I |
probably benign |
Het |
| Nme5 |
A |
C |
18: 34,711,639 (GRCm39) |
I34S |
probably damaging |
Het |
| Nrip2 |
T |
C |
6: 128,385,199 (GRCm39) |
L210P |
possibly damaging |
Het |
| Nup93 |
A |
G |
8: 95,030,807 (GRCm39) |
D424G |
probably benign |
Het |
| Or12e9 |
T |
C |
2: 87,202,497 (GRCm39) |
V207A |
probably benign |
Het |
| Or1e26 |
G |
A |
11: 73,479,874 (GRCm39) |
S230F |
probably damaging |
Het |
| Papss1 |
T |
A |
3: 131,311,696 (GRCm39) |
V308E |
probably benign |
Het |
| Pilrb1 |
T |
A |
5: 137,855,789 (GRCm39) |
Y34F |
probably benign |
Het |
| Pira2 |
T |
A |
7: 3,845,300 (GRCm39) |
E319D |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,682,929 (GRCm39) |
T91M |
probably damaging |
Het |
| Prph2 |
A |
G |
17: 47,230,790 (GRCm39) |
T228A |
probably benign |
Het |
| Ranbp17 |
G |
T |
11: 33,169,214 (GRCm39) |
S1000* |
probably null |
Het |
| Rbm27 |
A |
C |
18: 42,457,178 (GRCm39) |
H651P |
probably damaging |
Het |
| Scyl2 |
A |
T |
10: 89,476,835 (GRCm39) |
D763E |
probably benign |
Het |
| Sltm |
A |
G |
9: 70,488,644 (GRCm39) |
Y598C |
probably damaging |
Het |
| Smc2 |
A |
T |
4: 52,451,322 (GRCm39) |
K322I |
probably benign |
Het |
| Tcf4 |
G |
A |
18: 69,790,873 (GRCm39) |
R271Q |
probably null |
Het |
| Tex36 |
C |
T |
7: 133,196,140 (GRCm39) |
D87N |
probably damaging |
Het |
| Tex44 |
A |
C |
1: 86,354,751 (GRCm39) |
H220P |
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,950,825 (GRCm39) |
D1683G |
possibly damaging |
Het |
| Trav7-2 |
T |
C |
14: 53,628,573 (GRCm39) |
S104P |
probably damaging |
Het |
| Trim55 |
C |
T |
3: 19,745,719 (GRCm39) |
R532C |
probably damaging |
Het |
| Ube3c |
T |
A |
5: 29,807,215 (GRCm39) |
L338Q |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,546,556 (GRCm39) |
H3444R |
possibly damaging |
Het |
| Vars1 |
A |
G |
17: 35,234,717 (GRCm39) |
D1182G |
probably benign |
Het |
| Vit |
T |
A |
17: 78,930,232 (GRCm39) |
I399N |
possibly damaging |
Het |
| Vmn1r16 |
A |
T |
6: 57,300,091 (GRCm39) |
L177* |
probably null |
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 |
|
R4730:Grip2
|
UTSW |
6 |
91,762,693 (GRCm39) |
makesense |
probably null |
|
|
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 |
|
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'- CATGTGCATGTATGAGCACAGAG -3'
(R):5'- CGCCTCCTCTGCCTATATAAAG -3'
Sequencing Primer
(F):5'- TGCATGTATGAGCACAGAGAGAGAC -3'
(R):5'- GCCTCCTCTGCCTATATAAAGTAGAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation