Incidental Mutation 'R4491:Ighv7-2'
ID 330747
Institutional Source Beutler Lab
Gene Symbol Ighv7-2
Ensembl Gene ENSMUSG00000076653
Gene Name immunoglobulin heavy variable 7-2
Synonyms Gm16699
MMRRC Submission 041747-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R4491 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 113875645-113876103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113876100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 2 (F2L)
Ref Sequence ENSEMBL: ENSMUSP00000141892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103462] [ENSMUST00000193133]
AlphaFold A0A075B5R3
Predicted Effect probably benign
Transcript: ENSMUST00000103462
AA Change: F2L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100243
Gene: ENSMUSG00000076653
AA Change: F2L

DomainStartEndE-ValueType
IGv 33 116 7.66e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193133
AA Change: F2L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141892
Gene: ENSMUSG00000076653
AA Change: F2L

DomainStartEndE-ValueType
IGv 34 117 3.2e-34 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (64/65)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C A 5: 64,055,812 (GRCm39) P183T probably damaging Het
Bcan G A 3: 87,897,540 (GRCm39) R682* probably null Het
Bzw1 T A 1: 58,443,418 (GRCm39) L410Q probably damaging Het
Cdh5 A T 8: 104,839,672 (GRCm39) I48F probably damaging Het
Cdhr5 T C 7: 140,853,970 (GRCm39) N173D possibly damaging Het
Cfap74 T C 4: 155,513,628 (GRCm39) M480T probably benign Het
Col6a5 C T 9: 105,817,211 (GRCm39) A367T unknown Het
Cpsf1 A C 15: 76,481,922 (GRCm39) Y1064D possibly damaging Het
Defb6 A T 8: 19,278,090 (GRCm39) H54L probably benign Het
Dmtf1 A G 5: 9,190,379 (GRCm39) probably benign Het
Dnah12 T C 14: 26,455,758 (GRCm39) L827S possibly damaging Het
Dnai4 T C 4: 102,923,596 (GRCm39) E411G probably benign Het
Dsc3 T C 18: 20,134,922 (GRCm39) T21A probably benign Het
Epb41l1 G T 2: 156,364,088 (GRCm39) D866Y probably benign Het
Epha1 T C 6: 42,337,600 (GRCm39) M860V probably damaging Het
Far2 T C 6: 148,074,907 (GRCm39) L380P possibly damaging Het
Fgd5 A G 6: 91,966,280 (GRCm39) I680V possibly damaging Het
Fnbp4 T C 2: 90,583,312 (GRCm39) probably null Het
Focad G A 4: 88,278,142 (GRCm39) probably null Het
Gm14180 T A 11: 99,621,139 (GRCm39) probably benign Het
Hbb-bh2 T C 7: 103,489,622 (GRCm39) T5A probably benign Het
Igsf5 A G 16: 96,165,281 (GRCm39) T19A probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Klb A G 5: 65,533,137 (GRCm39) N482S probably benign Het
Lipo2 A C 19: 33,699,100 (GRCm39) L310R probably damaging Het
Mc3r A G 2: 172,091,123 (GRCm39) H115R possibly damaging Het
Meioc A G 11: 102,565,746 (GRCm39) D398G possibly damaging Het
Or10ag60 G A 2: 87,437,736 (GRCm39) M1I probably null Het
Or56a5 A T 7: 104,792,983 (GRCm39) C172* probably null Het
Or7a37 T C 10: 78,806,151 (GRCm39) S223P probably damaging Het
Pds5a T C 5: 65,792,780 (GRCm39) T718A probably benign Het
Pdzd2 C T 15: 12,385,723 (GRCm39) D1016N possibly damaging Het
Pla2g2c T C 4: 138,461,719 (GRCm39) probably null Het
Plch1 T C 3: 63,648,160 (GRCm39) I404V probably damaging Het
Pou2af3 A G 9: 51,181,955 (GRCm39) F206L probably benign Het
Ppp2r5c A T 12: 110,546,956 (GRCm39) D522V possibly damaging Het
Prex2 T A 1: 11,232,487 (GRCm39) S851R probably benign Het
Rapgef1 C T 2: 29,609,668 (GRCm39) P702S possibly damaging Het
Rasal3 T A 17: 32,610,359 (GRCm39) D976V probably damaging Het
Rasef A C 4: 73,652,740 (GRCm39) L587R probably damaging Het
Rptn A T 3: 93,303,818 (GRCm39) R384* probably null Het
Sema6a G A 18: 47,439,524 (GRCm39) probably benign Het
Sycp2 G T 2: 178,016,778 (GRCm39) T608K probably damaging Het
Syde1 C T 10: 78,426,062 (GRCm39) R35H probably benign Het
Taf1 G T X: 100,586,665 (GRCm39) M313I possibly damaging Het
Taf15 A T 11: 83,375,520 (GRCm39) T31S probably benign Het
Tktl2 T C 8: 66,964,664 (GRCm39) V74A probably damaging Het
Tle4 A G 19: 14,432,229 (GRCm39) V489A probably damaging Het
Tmem30a T C 9: 79,684,567 (GRCm39) H95R probably damaging Het
Trmt9b G A 8: 36,972,760 (GRCm39) C70Y probably damaging Het
Vmn1r75 C A 7: 11,614,909 (GRCm39) Q214K probably damaging Het
Vps13c C T 9: 67,817,475 (GRCm39) T1049M probably benign Het
Zfp37 T C 4: 62,110,365 (GRCm39) Q274R probably benign Het
Zfp648 T G 1: 154,080,873 (GRCm39) L344R probably damaging Het
Other mutations in Ighv7-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02612:Ighv7-2 APN 12 113,875,766 (GRCm39) missense probably damaging 1.00
R2077:Ighv7-2 UTSW 12 113,875,727 (GRCm39) missense probably damaging 1.00
R3029:Ighv7-2 UTSW 12 113,876,100 (GRCm39) missense probably benign 0.00
R4718:Ighv7-2 UTSW 12 113,876,089 (GRCm39) missense possibly damaging 0.51
R4771:Ighv7-2 UTSW 12 113,876,087 (GRCm39) missense probably benign 0.06
R4822:Ighv7-2 UTSW 12 113,875,892 (GRCm39) missense probably damaging 1.00
R6277:Ighv7-2 UTSW 12 113,876,087 (GRCm39) missense probably benign 0.06
R6372:Ighv7-2 UTSW 12 113,876,075 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GTTGCACAGGAGAGTCTCAG -3'
(R):5'- TTGCTGGCCAAACAACATAGG -3'

Sequencing Primer
(F):5'- GGCTGTACCAAGCCTCCTTCAG -3'
(R):5'- GTAGGGACCATGTGTGAAACC -3'
Posted On 2015-07-21