Incidental Mutation 'R5537:Brinp2'
ID |
434855 |
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 |
043095-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.237)
|
Stock # |
R5537 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
158072839-158183896 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 158082583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 246
(V246I)
|
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: V246I
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000004133 Gene: ENSMUSG00000004031 AA Change: V246I
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
T |
5: 9,005,485 (GRCm39) |
I1123F |
probably damaging |
Het |
Acsl3 |
C |
T |
1: 78,684,073 (GRCm39) |
R702C |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,604,892 (GRCm39) |
E1031G |
probably damaging |
Het |
Ankle2 |
T |
C |
5: 110,397,361 (GRCm39) |
S536P |
probably damaging |
Het |
Arfgef2 |
G |
T |
2: 166,698,513 (GRCm39) |
|
probably null |
Het |
Bahd1 |
G |
T |
2: 118,746,461 (GRCm39) |
D27Y |
probably damaging |
Het |
Ccdc187 |
C |
A |
2: 26,166,237 (GRCm39) |
A731S |
probably benign |
Het |
Cdc37l1 |
T |
A |
19: 28,972,518 (GRCm39) |
N70K |
probably damaging |
Het |
Cdk5r1 |
A |
G |
11: 80,368,825 (GRCm39) |
Y164C |
probably damaging |
Het |
Clrn3 |
A |
T |
7: 135,115,791 (GRCm39) |
H186Q |
probably benign |
Het |
Col12a1 |
G |
A |
9: 79,606,872 (GRCm39) |
T517I |
probably damaging |
Het |
Crhr1 |
T |
A |
11: 104,054,682 (GRCm39) |
N98K |
possibly damaging |
Het |
Dst |
C |
T |
1: 34,228,959 (GRCm39) |
S2362L |
probably benign |
Het |
Eapp |
G |
A |
12: 54,738,844 (GRCm39) |
T98I |
probably benign |
Het |
Iqsec3 |
T |
C |
6: 121,389,603 (GRCm39) |
|
probably benign |
Het |
Kctd12 |
A |
G |
14: 103,219,713 (GRCm39) |
V55A |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Lgr5 |
T |
C |
10: 115,292,594 (GRCm39) |
D432G |
probably benign |
Het |
Mrgprx1 |
T |
A |
7: 47,670,898 (GRCm39) |
H283L |
probably benign |
Het |
Nlrp4e |
T |
C |
7: 23,019,914 (GRCm39) |
F134L |
probably benign |
Het |
Or1e34 |
T |
C |
11: 73,778,523 (GRCm39) |
K225R |
probably benign |
Het |
Or4f14b |
A |
T |
2: 111,775,393 (GRCm39) |
M136K |
probably damaging |
Het |
Or5m5 |
T |
A |
2: 85,814,570 (GRCm39) |
Y129N |
possibly damaging |
Het |
Or8b43 |
T |
A |
9: 38,360,538 (GRCm39) |
Y123* |
probably null |
Het |
Pfkp |
C |
A |
13: 6,669,278 (GRCm39) |
W235L |
probably damaging |
Het |
Prom1 |
C |
T |
5: 44,158,118 (GRCm39) |
|
probably null |
Het |
Psma5-ps |
A |
G |
10: 85,149,913 (GRCm39) |
|
noncoding transcript |
Het |
Rab14 |
A |
T |
2: 35,082,649 (GRCm39) |
F12L |
possibly damaging |
Het |
Rnf40 |
T |
A |
7: 127,195,261 (GRCm39) |
I429N |
probably benign |
Het |
S100pbp |
G |
A |
4: 129,075,981 (GRCm39) |
P115S |
probably benign |
Het |
Scarf1 |
G |
A |
11: 75,416,357 (GRCm39) |
A600T |
probably damaging |
Het |
Slc6a5 |
T |
C |
7: 49,609,059 (GRCm39) |
F755L |
probably benign |
Het |
Slc7a2 |
A |
T |
8: 41,367,023 (GRCm39) |
I510F |
probably benign |
Het |
Spag16 |
T |
C |
1: 69,866,175 (GRCm39) |
S5P |
probably benign |
Het |
Tex15 |
A |
G |
8: 34,061,641 (GRCm39) |
Y631C |
probably damaging |
Het |
Tmem182 |
A |
T |
1: 40,894,069 (GRCm39) |
I195F |
probably benign |
Het |
Tox |
A |
G |
4: 6,697,510 (GRCm39) |
L431P |
probably damaging |
Het |
Tprn |
G |
A |
2: 25,153,369 (GRCm39) |
A224T |
probably benign |
Het |
Tsg101 |
T |
C |
7: 46,540,876 (GRCm39) |
K294E |
probably benign |
Het |
Tubb2a |
C |
A |
13: 34,259,434 (GRCm39) |
V119L |
probably benign |
Het |
Vps37d |
C |
T |
5: 135,103,256 (GRCm39) |
E129K |
possibly damaging |
Het |
Zfp974 |
TAATCTGTCTCCAAATCTG |
TAATCTG |
7: 27,611,671 (GRCm39) |
|
probably benign |
Het |
Zpld1 |
A |
G |
16: 55,054,003 (GRCm39) |
V263A |
possibly damaging |
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 |
R1017:Brinp2
|
UTSW |
1 |
158,077,021 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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'- ATACTCTCAAGGGGAGGCCAAG -3'
(R):5'- TCACTTCAGATTCCTATGAGATGC -3'
Sequencing Primer
(F):5'- GAGCCTGGACACAGCCATC -3'
(R):5'- GCAAATGCAGTTCCTTAGGTCAG -3'
|
Posted On |
2016-10-24 |