Incidental Mutation 'R3014:Gprin1'
| ID |
257611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gprin1
|
| Ensembl Gene |
ENSMUSG00000069227 |
| Gene Name |
G protein-regulated inducer of neurite outgrowth 1 |
| Synonyms |
Z16, GRIN1 |
| MMRRC Submission |
040535-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3014 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
54884484-54897486 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 54886288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 662
(D662V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037145]
[ENSMUST00000099506]
[ENSMUST00000135343]
|
| AlphaFold |
Q3UNH4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037145
|
| SMART Domains |
Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
CA
|
48 |
122 |
8.62e-15 |
SMART |
|
CA
|
146 |
239 |
1.4e-2 |
SMART |
|
CA
|
263 |
351 |
2.19e-16 |
SMART |
|
CA
|
391 |
478 |
4.22e-9 |
SMART |
|
CA
|
503 |
584 |
2.15e-24 |
SMART |
|
CA
|
605 |
693 |
6.78e-22 |
SMART |
|
CA
|
715 |
805 |
1.78e-16 |
SMART |
|
CA
|
830 |
925 |
7.57e-11 |
SMART |
|
CA
|
950 |
1042 |
7.1e-2 |
SMART |
|
low complexity region
|
1121 |
1147 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1153 |
1175 |
N/A |
INTRINSIC |
|
low complexity region
|
1195 |
1209 |
N/A |
INTRINSIC |
|
low complexity region
|
1234 |
1250 |
N/A |
INTRINSIC |
|
low complexity region
|
1264 |
1277 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099506
AA Change: D662V
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000097106
Gene: ENSMUSG00000069227
AA Change: D662V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
80 |
256 |
2.14e-7 |
PROSPERO |
|
internal_repeat_2
|
95 |
267 |
4.89e-7 |
PROSPERO |
|
low complexity region
|
314 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
443 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
448 |
620 |
4.89e-7 |
PROSPERO |
|
internal_repeat_1
|
457 |
643 |
2.14e-7 |
PROSPERO |
|
low complexity region
|
684 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
773 |
N/A |
INTRINSIC |
|
Pfam:GRIN_C
|
790 |
929 |
4.2e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135343
AA Change: D662V
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000115539
Gene: ENSMUSG00000069227
AA Change: D662V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
80 |
256 |
2.14e-7 |
PROSPERO |
|
internal_repeat_2
|
95 |
267 |
4.89e-7 |
PROSPERO |
|
low complexity region
|
314 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
443 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
448 |
620 |
4.89e-7 |
PROSPERO |
|
internal_repeat_1
|
457 |
643 |
2.14e-7 |
PROSPERO |
|
low complexity region
|
684 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
773 |
N/A |
INTRINSIC |
|
Pfam:GRIN_C
|
787 |
932 |
2.6e-49 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angpt4 |
G |
T |
2: 151,771,517 (GRCm39) |
V278L |
probably benign |
Het |
| Dmbt1 |
A |
G |
7: 130,633,827 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,321,304 (GRCm39) |
N3921K |
probably benign |
Het |
| Duxf4 |
G |
A |
10: 58,071,356 (GRCm39) |
T286I |
possibly damaging |
Het |
| Fam193a |
A |
T |
5: 34,623,016 (GRCm39) |
E1201D |
probably benign |
Het |
| Gm10220 |
G |
C |
5: 26,322,826 (GRCm39) |
D195E |
probably damaging |
Het |
| Gmps |
A |
G |
3: 63,922,857 (GRCm39) |
K607E |
possibly damaging |
Het |
| Gria4 |
A |
G |
9: 4,464,294 (GRCm39) |
I556T |
probably damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Hcar2 |
A |
T |
5: 124,002,768 (GRCm39) |
V245E |
probably damaging |
Het |
| Hmces |
T |
G |
6: 87,894,823 (GRCm39) |
D62E |
probably benign |
Het |
| Ighv1-4 |
T |
A |
12: 114,450,769 (GRCm39) |
Y113F |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kng1 |
C |
T |
16: 22,898,120 (GRCm39) |
H507Y |
possibly damaging |
Het |
| Lypd10 |
A |
G |
7: 24,412,821 (GRCm39) |
I76M |
possibly damaging |
Het |
| Map3k5 |
A |
T |
10: 19,970,175 (GRCm39) |
Y694F |
probably damaging |
Het |
| Myo1a |
T |
G |
10: 127,552,214 (GRCm39) |
F778V |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Or1ad1 |
A |
G |
11: 50,875,534 (GRCm39) |
D2G |
probably benign |
Het |
| Or4l1 |
G |
A |
14: 50,166,489 (GRCm39) |
H171Y |
probably benign |
Het |
| Or6aa1 |
A |
G |
7: 86,043,884 (GRCm39) |
V274A |
probably benign |
Het |
| Or6z6 |
A |
T |
7: 6,491,470 (GRCm39) |
Y134* |
probably null |
Het |
| Parp3 |
C |
A |
9: 106,348,514 (GRCm39) |
S507I |
possibly damaging |
Het |
| Ppip5k2 |
T |
A |
1: 97,671,800 (GRCm39) |
T491S |
probably damaging |
Het |
| Psmg1 |
T |
A |
16: 95,781,248 (GRCm39) |
I266F |
probably damaging |
Het |
| Ptpn23 |
T |
C |
9: 110,218,763 (GRCm39) |
T476A |
probably benign |
Het |
| Rttn |
G |
C |
18: 89,032,744 (GRCm39) |
V671L |
probably damaging |
Het |
| Srsf7 |
T |
C |
17: 80,508,990 (GRCm39) |
E235G |
unknown |
Het |
| Sv2a |
G |
A |
3: 96,096,751 (GRCm39) |
W416* |
probably null |
Het |
| Tas2r107 |
A |
G |
6: 131,636,972 (GRCm39) |
Y26H |
probably benign |
Het |
| Tenm2 |
T |
C |
11: 35,914,800 (GRCm39) |
T2245A |
probably damaging |
Het |
| Vmn2r13 |
T |
A |
5: 109,319,627 (GRCm39) |
H451L |
possibly damaging |
Het |
| Xkr6 |
T |
C |
14: 64,056,793 (GRCm39) |
Y235H |
unknown |
Het |
|
| Other mutations in Gprin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01021:Gprin1
|
APN |
13 |
54,888,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02001:Gprin1
|
APN |
13 |
54,887,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03188:Gprin1
|
APN |
13 |
54,886,465 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03308:Gprin1
|
APN |
13 |
54,887,957 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0980:Gprin1
|
UTSW |
13 |
54,888,214 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1638:Gprin1
|
UTSW |
13 |
54,887,689 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1942:Gprin1
|
UTSW |
13 |
54,887,752 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2145:Gprin1
|
UTSW |
13 |
54,886,445 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2215:Gprin1
|
UTSW |
13 |
54,888,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2338:Gprin1
|
UTSW |
13 |
54,886,238 (GRCm39) |
splice site |
probably null |
|
|
R4634:Gprin1
|
UTSW |
13 |
54,885,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Gprin1
|
UTSW |
13 |
54,887,770 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4733:Gprin1
|
UTSW |
13 |
54,887,770 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4903:Gprin1
|
UTSW |
13 |
54,885,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Gprin1
|
UTSW |
13 |
54,885,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5102:Gprin1
|
UTSW |
13 |
54,887,576 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5979:Gprin1
|
UTSW |
13 |
54,887,791 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6544:Gprin1
|
UTSW |
13 |
54,888,124 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7007:Gprin1
|
UTSW |
13 |
54,886,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7022:Gprin1
|
UTSW |
13 |
54,886,855 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7110:Gprin1
|
UTSW |
13 |
54,887,056 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7385:Gprin1
|
UTSW |
13 |
54,886,423 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7916:Gprin1
|
UTSW |
13 |
54,887,263 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8696:Gprin1
|
UTSW |
13 |
54,885,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9151:Gprin1
|
UTSW |
13 |
54,886,778 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9178:Gprin1
|
UTSW |
13 |
54,885,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9285:Gprin1
|
UTSW |
13 |
54,886,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9398:Gprin1
|
UTSW |
13 |
54,887,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9711:Gprin1
|
UTSW |
13 |
54,886,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Gprin1
|
UTSW |
13 |
54,888,210 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTACACTTCCCACGTCATGC -3'
(R):5'- TGAGAAGACAGATCCCTCCAG -3'
Sequencing Primer
(F):5'- TCCTGCGGAGACATGGG -3'
(R):5'- GACAGATCCCTCCAGAAAAGTCG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation