Incidental Mutation 'R1017:Brinp2'
| ID |
96374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brinp2
|
| Ensembl Gene |
ENSMUSG00000004031 |
| Gene Name |
bone morphogenic protein/retinoic acid inducible neural-specific 2 |
| Synonyms |
6430517E21Rik, Fam5b |
| MMRRC Submission |
039121-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.237)
|
| Stock # |
R1017 (G1)
|
| Quality Score |
213 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
158072839-158183896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 158077021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 358
(I358N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004133]
[ENSMUST00000195271]
|
| AlphaFold |
Q6DFY8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004133
AA Change: I358N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000004133
Gene: ENSMUSG00000004031
AA Change: I358N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
MACPF
|
89 |
281 |
6.58e-50 |
SMART |
|
Blast:MACPF
|
338 |
362 |
1e-5 |
BLAST |
|
EGF
|
457 |
492 |
6.92e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195271
|
| SMART Domains |
Protein: ENSMUSP00000141709
Gene: ENSMUSG00000004031
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:MACPF
|
63 |
160 |
2.1e-6 |
PFAM |
|
| Meta Mutation Damage Score |
0.8527 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
C |
T |
6: 125,038,223 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,987,907 (GRCm39) |
I3064F |
probably damaging |
Het |
| Arhgef10l |
C |
A |
4: 140,242,617 (GRCm39) |
R884L |
probably damaging |
Het |
| Baiap2l2 |
A |
G |
15: 79,145,443 (GRCm39) |
F317L |
probably benign |
Het |
| Ccin |
A |
G |
4: 43,985,222 (GRCm39) |
D543G |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,167,572 (GRCm39) |
D1806V |
probably damaging |
Het |
| Cdh6 |
C |
T |
15: 13,051,562 (GRCm39) |
R357Q |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,293,797 (GRCm39) |
M64V |
possibly damaging |
Het |
| Ctnnb1 |
T |
A |
9: 120,779,794 (GRCm39) |
F74I |
probably damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,272,307 (GRCm39) |
I302N |
probably damaging |
Het |
| Dnase1l2 |
C |
T |
17: 24,661,446 (GRCm39) |
A56T |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,634,633 (GRCm39) |
D190V |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,891,398 (GRCm39) |
|
probably null |
Het |
| Fscb |
T |
A |
12: 64,520,242 (GRCm39) |
D408V |
probably benign |
Het |
| Gm10306 |
A |
G |
4: 94,444,957 (GRCm39) |
|
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,765,803 (GRCm39) |
M409K |
probably benign |
Het |
| Gsx2 |
T |
C |
5: 75,237,923 (GRCm39) |
S292P |
probably damaging |
Het |
| Hira |
T |
A |
16: 18,718,097 (GRCm39) |
|
probably null |
Het |
| Hoxa3 |
G |
T |
6: 52,149,386 (GRCm39) |
|
probably null |
Het |
| Irak3 |
T |
C |
10: 119,978,789 (GRCm39) |
E554G |
possibly damaging |
Het |
| Itgb3bp |
A |
G |
4: 99,657,724 (GRCm39) |
|
probably benign |
Het |
| Kifc3 |
C |
T |
8: 95,832,413 (GRCm39) |
D379N |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,837,213 (GRCm39) |
V1032A |
probably damaging |
Het |
| Lmln |
T |
G |
16: 32,908,546 (GRCm39) |
I324R |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,005,501 (GRCm39) |
S1547P |
possibly damaging |
Het |
| Mdga1 |
T |
A |
17: 30,069,522 (GRCm39) |
T175S |
probably damaging |
Het |
| Mrps6 |
T |
A |
16: 91,855,346 (GRCm39) |
L8* |
probably null |
Het |
| Mtmr11 |
A |
C |
3: 96,071,794 (GRCm39) |
T203P |
probably damaging |
Het |
| Nat8f7 |
T |
C |
6: 85,684,552 (GRCm39) |
D96G |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,889,179 (GRCm39) |
E7531G |
unknown |
Het |
| Or2k2 |
A |
T |
4: 58,785,115 (GRCm39) |
S202R |
probably damaging |
Het |
| Or8k25 |
A |
T |
2: 86,243,855 (GRCm39) |
D180E |
probably damaging |
Het |
| Or8k27 |
A |
T |
2: 86,275,772 (GRCm39) |
L185I |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,380,063 (GRCm39) |
Y69C |
probably damaging |
Het |
| Polrmt |
C |
T |
10: 79,579,343 (GRCm39) |
W136* |
probably null |
Het |
| Raver1 |
T |
C |
9: 20,990,886 (GRCm39) |
|
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rsl1d1 |
T |
C |
16: 11,021,116 (GRCm39) |
K2E |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,107,107 (GRCm39) |
T417I |
probably benign |
Het |
| Spdl1 |
T |
C |
11: 34,710,117 (GRCm39) |
K388R |
possibly damaging |
Het |
| Tulp1 |
T |
C |
17: 28,583,277 (GRCm39) |
R88G |
probably damaging |
Het |
| Vldlr |
A |
C |
19: 27,218,733 (GRCm39) |
Y528S |
probably damaging |
Het |
| Zdhhc14 |
T |
A |
17: 5,543,924 (GRCm39) |
L68H |
probably damaging |
Het |
| Zfp605 |
C |
T |
5: 110,275,860 (GRCm39) |
T326I |
probably benign |
Het |
|
| Other mutations in Brinp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00327:Brinp2
|
APN |
1 |
158,074,670 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01537:Brinp2
|
APN |
1 |
158,074,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02354:Brinp2
|
APN |
1 |
158,074,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02361:Brinp2
|
APN |
1 |
158,074,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
slowdancing
|
UTSW |
1 |
158,094,030 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0334:Brinp2
|
UTSW |
1 |
158,123,155 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0652:Brinp2
|
UTSW |
1 |
158,074,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1141:Brinp2
|
UTSW |
1 |
158,074,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1378:Brinp2
|
UTSW |
1 |
158,074,624 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1666:Brinp2
|
UTSW |
1 |
158,074,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1892:Brinp2
|
UTSW |
1 |
158,082,542 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1986:Brinp2
|
UTSW |
1 |
158,074,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3876:Brinp2
|
UTSW |
1 |
158,074,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3924:Brinp2
|
UTSW |
1 |
158,073,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4582:Brinp2
|
UTSW |
1 |
158,095,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5239:Brinp2
|
UTSW |
1 |
158,078,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5537:Brinp2
|
UTSW |
1 |
158,082,583 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5582:Brinp2
|
UTSW |
1 |
158,076,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5762:Brinp2
|
UTSW |
1 |
158,074,156 (GRCm39) |
missense |
probably benign |
|
|
R5922:Brinp2
|
UTSW |
1 |
158,076,925 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6746:Brinp2
|
UTSW |
1 |
158,094,160 (GRCm39) |
missense |
probably benign |
|
|
R6999:Brinp2
|
UTSW |
1 |
158,078,875 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7144:Brinp2
|
UTSW |
1 |
158,122,994 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7221:Brinp2
|
UTSW |
1 |
158,094,117 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7376:Brinp2
|
UTSW |
1 |
158,078,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7381:Brinp2
|
UTSW |
1 |
158,073,913 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7388:Brinp2
|
UTSW |
1 |
158,082,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7531:Brinp2
|
UTSW |
1 |
158,094,142 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7697:Brinp2
|
UTSW |
1 |
158,095,496 (GRCm39) |
missense |
probably benign |
|
|
R7701:Brinp2
|
UTSW |
1 |
158,094,030 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7910:Brinp2
|
UTSW |
1 |
158,074,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7973:Brinp2
|
UTSW |
1 |
158,074,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7976:Brinp2
|
UTSW |
1 |
158,073,913 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9343:Brinp2
|
UTSW |
1 |
158,077,090 (GRCm39) |
splice site |
probably benign |
|
|
R9513:Brinp2
|
UTSW |
1 |
158,074,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Brinp2
|
UTSW |
1 |
158,095,553 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Brinp2
|
UTSW |
1 |
158,074,559 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Brinp2
|
UTSW |
1 |
158,074,741 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Brinp2
|
UTSW |
1 |
158,074,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Brinp2
|
UTSW |
1 |
158,074,352 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGGGACACAAGGCTCCTTTAAC -3'
(R):5'- AGTGGATGTGAATGAGCCCACTTTC -3'
Sequencing Primer
(F):5'- ACTGAATGGGTCACCACATTCTG -3'
(R):5'- GAATGAGCCCACTTTCTTATGCAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation