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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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