Incidental Mutation 'R5857:Prl7a1'
ID454975
Institutional Source Beutler Lab
Gene Symbol Prl7a1
Ensembl Gene ENSMUSG00000006488
Gene Nameprolactin family 7, subfamily a, member 1
SynonymsPLP-G, Prlpg, Prlpe, PLP-E
MMRRC Submission 044069-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #R5857 (G1)
Quality Score225
Status Validated
Chromosome13
Chromosomal Location27633366-27642493 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 27640701 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 50 (D50E)
Ref Sequence ENSEMBL: ENSMUSP00000093614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006659] [ENSMUST00000095924] [ENSMUST00000224852]
Predicted Effect probably damaging
Transcript: ENSMUST00000006659
AA Change: D49E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000006659
Gene: ENSMUSG00000006488
AA Change: D49E

DomainStartEndE-ValueType
Pfam:Hormone_1 16 82 9.9e-8 PFAM
Pfam:Hormone_1 82 256 2.6e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000095924
AA Change: D50E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093614
Gene: ENSMUSG00000006488
AA Change: D50E

DomainStartEndE-ValueType
Pfam:Hormone_1 17 257 7.8e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000224852
AA Change: D49E

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 95% (55/58)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 72,449,525 I266V probably benign Het
Anks6 C T 4: 47,039,736 A492T possibly damaging Het
Ano1 A T 7: 144,637,103 C415S probably benign Het
Anxa3 T A 5: 96,828,792 probably null Het
Apob T C 12: 8,015,397 V4089A probably benign Het
Arhgap23 C T 11: 97,451,579 A229V possibly damaging Het
Atad5 T C 11: 80,131,329 F1447L probably benign Het
Btbd8 T A 5: 107,461,532 D212E probably damaging Het
Ccdc38 G T 10: 93,562,833 A58S possibly damaging Het
Cep112 T C 11: 108,531,471 probably benign Het
Col4a2 G A 8: 11,425,442 G622D probably damaging Het
Crhbp T A 13: 95,442,232 Q134L probably benign Het
Ctnnbl1 T C 2: 157,789,098 S145P probably damaging Het
Cyp4f16 T A 17: 32,537,024 L9Q probably damaging Het
Dchs2 T G 3: 83,270,313 I891S possibly damaging Het
Disp3 A T 4: 148,249,183 V1066D probably benign Het
Dlgap1 A G 17: 70,815,393 probably benign Het
Dnah3 TTCCTC TTC 7: 119,951,021 probably benign Het
Efl1 T A 7: 82,763,189 C929S probably benign Het
Fam129b T A 2: 32,909,908 N82K probably benign Het
Gatb T C 3: 85,575,932 F82S probably damaging Het
Gk5 C A 9: 96,119,455 S2* probably null Het
Gpr135 G A 12: 72,070,840 A51V probably benign Het
Hoxa9 T A 6: 52,224,297 N255Y probably damaging Het
Igkv8-18 T C 6: 70,355,920 V15A probably benign Het
Ism2 T C 12: 87,280,061 D368G probably damaging Het
Krtap6-2 A T 16: 89,419,642 S146T unknown Het
Lama1 T A 17: 67,807,843 L2329H probably damaging Het
Llgl2 T A 11: 115,850,281 I507N probably damaging Het
Lmna GCTGCCCACAC GC 3: 88,482,531 probably benign Het
Lrfn3 A T 7: 30,359,438 I454N possibly damaging Het
Mdn1 C A 4: 32,670,646 T437K probably benign Het
Nat8f3 T C 6: 85,761,753 Y9C probably damaging Het
Nlrp4d C A 7: 10,382,377 G156V noncoding transcript Het
Npnt A T 3: 132,908,349 C167S probably damaging Het
Nr3c2 A G 8: 76,908,867 N199S possibly damaging Het
Olfr248 T G 1: 174,391,108 I13R possibly damaging Het
Olfr870 C T 9: 20,171,239 D111N probably damaging Het
Olfr884 T G 9: 38,047,753 V177G probably benign Het
Pabpc1l T A 2: 164,044,255 probably null Het
Pi4ka A G 16: 17,358,984 I366T probably benign Het
Rad52 T G 6: 119,911,007 probably null Het
Rbm19 T A 5: 120,132,942 L610Q probably damaging Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Scube1 G T 15: 83,607,260 probably benign Het
Sptbn4 G T 7: 27,418,713 R314S possibly damaging Het
Togaram1 T A 12: 64,995,557 I1130K possibly damaging Het
Tsc2 T C 17: 24,600,007 E1352G probably damaging Het
Ube2d2a A G 18: 35,805,543 T142A probably benign Het
Vps18 T C 2: 119,297,533 Y946H probably damaging Het
Other mutations in Prl7a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00826:Prl7a1 APN 13 27640795 missense probably damaging 0.97
IGL02862:Prl7a1 APN 13 27639889 missense probably benign 0.05
R0841:Prl7a1 UTSW 13 27642410 splice site probably benign
R1005:Prl7a1 UTSW 13 27642446 missense possibly damaging 0.75
R1641:Prl7a1 UTSW 13 27633629 missense probably damaging 1.00
R1991:Prl7a1 UTSW 13 27633672 missense probably damaging 0.96
R2233:Prl7a1 UTSW 13 27642419 critical splice donor site probably null
R4061:Prl7a1 UTSW 13 27635849 missense possibly damaging 0.83
R4239:Prl7a1 UTSW 13 27637566 missense possibly damaging 0.92
R4817:Prl7a1 UTSW 13 27635764 missense probably damaging 0.99
R4976:Prl7a1 UTSW 13 27633581 missense possibly damaging 0.52
R4992:Prl7a1 UTSW 13 27635686 splice site probably null
R5119:Prl7a1 UTSW 13 27633581 missense possibly damaging 0.52
R6060:Prl7a1 UTSW 13 27637588 missense probably damaging 1.00
R6164:Prl7a1 UTSW 13 27637643 missense probably benign 0.00
R6581:Prl7a1 UTSW 13 27633629 missense probably damaging 1.00
R7126:Prl7a1 UTSW 13 27642419 critical splice donor site probably null
R7892:Prl7a1 UTSW 13 27633678 missense not run
R7908:Prl7a1 UTSW 13 27642450 start codon destroyed probably null 0.91
R7975:Prl7a1 UTSW 13 27633678 missense not run
R7989:Prl7a1 UTSW 13 27642450 start codon destroyed probably null 0.91
Predicted Primers PCR Primer
(F):5'- GCGAAAACTCCAAGGTTCATTG -3'
(R):5'- TTCTGGCCATTATAAATAAGGCTGC -3'

Sequencing Primer
(F):5'- CTATAAGAGTTCATGAAGCATATCCC -3'
(R):5'- AAATAAGGCTGCTATGAACATAGTG -3'
Posted On2017-02-10