Incidental Mutation 'R7144:Brinp2'
ID 553596
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 045328-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R7144 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 158072839-158183896 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 158122994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000004133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004133] [ENSMUST00000195271]
AlphaFold Q6DFY8
Predicted Effect probably null
Transcript: ENSMUST00000004133
SMART Domains Protein: ENSMUSP00000004133
Gene: ENSMUSG00000004031

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
Meta Mutation Damage Score 0.9492 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (95/96)
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,032,796 (GRCm39) I272F possibly damaging Het
Adcy10 G T 1: 165,337,939 (GRCm39) M184I probably benign Het
Aldoa G T 7: 126,396,034 (GRCm39) T124N possibly damaging Het
Ap4e1 T A 2: 126,853,727 (GRCm39) I55N probably damaging Het
Arhgap21 T C 2: 20,870,198 (GRCm39) T913A probably benign Het
Atrnl1 G A 19: 58,030,784 (GRCm39) E1309K probably damaging Het
BC034090 A T 1: 155,117,777 (GRCm39) C114S probably damaging Het
Ccn4 T A 15: 66,784,879 (GRCm39) V184E probably damaging Het
Ccna1 G T 3: 54,953,120 (GRCm39) H408Q probably benign Het
Cd209g T G 8: 4,185,189 (GRCm39) probably benign Het
Cdc20b A G 13: 113,219,905 (GRCm39) I433V probably benign Het
Cdk2ap1 G A 5: 124,492,421 (GRCm39) P5L probably damaging Het
Cep128 T C 12: 91,260,933 (GRCm39) E310G probably damaging Het
Cflar G T 1: 58,793,007 (GRCm39) V458F Het
Clec4b2 A G 6: 123,158,343 (GRCm39) T70A probably benign Het
Cntnap5c A G 17: 58,593,883 (GRCm39) T741A probably benign Het
Csf3r A T 4: 125,937,515 (GRCm39) T800S probably benign Het
Csnk1g2 T C 10: 80,473,733 (GRCm39) Y67H probably damaging Het
Cyp2c67 A T 19: 39,604,138 (GRCm39) V406E probably benign Het
Dnah10 A G 5: 124,900,006 (GRCm39) D3868G probably damaging Het
Dnah7a A T 1: 53,737,867 (GRCm39) probably null Het
Dst A G 1: 34,191,324 (GRCm39) N208S probably damaging Het
Echdc3 A G 2: 6,211,224 (GRCm39) probably null Het
Edrf1 T C 7: 133,239,578 (GRCm39) S13P probably benign Het
Ephb1 T C 9: 101,841,276 (GRCm39) Y734C probably damaging Het
Eps8l1 A G 7: 4,475,184 (GRCm39) Y325C probably damaging Het
Evc2 A G 5: 37,544,183 (GRCm39) D644G probably damaging Het
Eya4 A C 10: 23,048,943 (GRCm39) D54E probably benign Het
Filip1 T C 9: 79,727,495 (GRCm39) S375G possibly damaging Het
Fmo9 A G 1: 166,505,189 (GRCm39) M68T probably benign Het
Gemin5 G C 11: 58,032,489 (GRCm39) P772A probably benign Het
Gle1 T G 2: 29,833,805 (GRCm39) C401G probably damaging Het
Gm7298 A T 6: 121,738,546 (GRCm39) I376F probably damaging Het
Gpr35 A C 1: 92,910,353 (GRCm39) I22L probably benign Het
Grin2b T G 6: 135,710,474 (GRCm39) D1024A possibly damaging Het
Hmcn1 T C 1: 150,539,624 (GRCm39) N2956D probably damaging Het
Htt T C 5: 35,003,350 (GRCm39) L1275P probably damaging Het
Ibtk T C 9: 85,625,744 (GRCm39) D2G probably benign Het
Il16 T A 7: 83,295,659 (GRCm39) D1170V probably damaging Het
Iqgap3 T A 3: 88,024,217 (GRCm39) I1513N probably damaging Het
Kiz T G 2: 146,792,430 (GRCm39) probably null Het
Krt12 A T 11: 99,306,839 (GRCm39) *488K probably null Het
Lap3 A T 5: 45,654,290 (GRCm39) T83S probably benign Het
Lars2 T A 9: 123,261,058 (GRCm39) S410T probably damaging Het
Limch1 A G 5: 67,175,001 (GRCm39) T518A probably benign Het
Lrrc49 A T 9: 60,522,439 (GRCm39) S381T probably damaging Het
Lrrk2 A G 15: 91,618,258 (GRCm39) D919G possibly damaging Het
Mmp1a A T 9: 7,475,319 (GRCm39) S363C probably damaging Het
Mrps22 A C 9: 98,483,524 (GRCm39) probably null Het
Mybpc3 T C 2: 90,964,949 (GRCm39) I1066T probably benign Het
Myo10 A T 15: 25,724,011 (GRCm39) N215I probably damaging Het
Myocd A C 11: 65,109,474 (GRCm39) L99R probably damaging Het
Nadk T G 4: 155,673,793 (GRCm39) I394S probably damaging Het
Nadsyn1 T C 7: 143,364,952 (GRCm39) N251S probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Ncapd2 G A 6: 125,153,633 (GRCm39) P694L probably benign Het
Or2ag1 T A 7: 106,473,075 (GRCm39) I126F probably damaging Het
Or2w3b A C 11: 58,623,571 (GRCm39) L140R probably damaging Het
Or4a71 T C 2: 89,357,901 (GRCm39) I284M probably damaging Het
Or5t16 G T 2: 86,819,164 (GRCm39) R119S probably damaging Het
Pcdhb13 T A 18: 37,576,309 (GRCm39) I229K probably damaging Het
Pgbd5 A T 8: 125,101,056 (GRCm39) M400K possibly damaging Het
Phactr3 A G 2: 177,944,529 (GRCm39) N409S probably damaging Het
Pik3c2g C A 6: 139,606,868 (GRCm39) P305Q probably damaging Het
Pik3r4 G A 9: 105,527,783 (GRCm39) V379M probably damaging Het
Pira12 A G 7: 3,900,615 (GRCm39) V45A probably damaging Het
Pkd1l2 A T 8: 117,802,870 (GRCm39) C250* probably null Het
Pramel14 A C 4: 143,718,103 (GRCm39) S447A probably benign Het
Rapgef6 A C 11: 54,548,191 (GRCm39) T792P possibly damaging Het
Rexo5 A G 7: 119,404,414 (GRCm39) D170G probably damaging Het
Rnf17 G A 14: 56,749,789 (GRCm39) probably null Het
Septin11 A G 5: 93,304,725 (GRCm39) I181V probably benign Het
Serpina1e T G 12: 103,913,277 (GRCm39) *414C probably null Het
Serpine1 C A 5: 137,099,918 (GRCm39) Q80H probably damaging Het
Sh3bp2 A G 5: 34,718,975 (GRCm39) N560S probably benign Het
Slc25a25 A G 2: 32,309,178 (GRCm39) F221S probably damaging Het
Spag17 G T 3: 99,934,717 (GRCm39) probably null Het
Sspn T C 6: 145,906,881 (GRCm39) L104P probably damaging Het
St18 A C 1: 6,903,818 (GRCm39) E693A probably damaging Het
St6galnac3 T C 3: 153,117,169 (GRCm39) I185V possibly damaging Het
St8sia1 T C 6: 142,822,395 (GRCm39) D156G probably damaging Het
Syne2 C A 12: 76,052,152 (GRCm39) S4092R probably benign Het
Tll1 T A 8: 64,577,979 (GRCm39) D76V possibly damaging Het
Tmco1 C T 1: 167,136,022 (GRCm39) probably benign Het
Tnfaip3 T A 10: 18,883,029 (GRCm39) T179S probably benign Het
Trav16 T C 14: 53,981,096 (GRCm39) I95T possibly damaging Het
Trip12 A T 1: 84,771,435 (GRCm39) S280T probably damaging Het
Unc79 A G 12: 103,108,885 (GRCm39) M2166V probably benign Het
Vmn2r1 A G 3: 63,997,362 (GRCm39) I339M probably damaging Het
Vwa5b1 A G 4: 138,332,742 (GRCm39) probably null Het
Washc4 A T 10: 83,409,638 (GRCm39) probably null Het
Wiz A G 17: 32,576,602 (GRCm39) S642P possibly damaging Het
Zeb2 T A 2: 45,000,053 (GRCm39) K60N possibly damaging Het
Zfat T A 15: 68,050,631 (GRCm39) T797S probably benign Het
Zfp74 T C 7: 29,634,590 (GRCm39) K373E probably damaging Het
Zswim5 T C 4: 116,833,173 (GRCm39) probably null 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
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
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'- TTTTGCTAAGTCCCCAGGAGG -3'
(R):5'- CAGCTCTTGGTTTAGAGGGC -3'

Sequencing Primer
(F):5'- CGTCAGCAGGTTTTCTAGTTTG -3'
(R):5'- AGTCCTGCTGGCGCTAG -3'
Posted On 2019-05-15