Incidental Mutation 'R2016:Prl7d1'
ID 223082
Institutional Source Beutler Lab
Gene Symbol Prl7d1
Ensembl Gene ENSMUSG00000021348
Gene Name prolactin family 7, subfamily d, member 1
Synonyms Plfr, PLF-RP, PRP
MMRRC Submission 040025-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2016 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 27892981-27900720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 27894156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 138 (H138Y)
Ref Sequence ENSEMBL: ENSMUSP00000153033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021776] [ENSMUST00000224026]
AlphaFold P04769
Predicted Effect probably damaging
Transcript: ENSMUST00000021776
AA Change: H137Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021776
Gene: ENSMUSG00000021348
AA Change: H137Y

DomainStartEndE-ValueType
Pfam:Hormone_1 17 240 1.1e-78 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000224026
AA Change: H138Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025C18Rik T C 2: 164,920,946 (GRCm39) D29G unknown Het
Abca13 A T 11: 9,240,619 (GRCm39) L827F probably damaging Het
Abca8a A G 11: 109,961,213 (GRCm39) F570L probably damaging Het
Adck1 T A 12: 88,427,862 (GRCm39) I493N probably damaging Het
Adra2c T C 5: 35,437,656 (GRCm39) C143R probably damaging Het
Afg2a T C 3: 37,632,911 (GRCm39) V839A possibly damaging Het
Akap13 C T 7: 75,354,279 (GRCm39) T1800M probably damaging Het
Angpt2 T C 8: 18,755,747 (GRCm39) N240S probably damaging Het
Apob G A 12: 8,057,751 (GRCm39) D2078N possibly damaging Het
Atp8b1 T C 18: 64,673,405 (GRCm39) N989S probably damaging Het
B3gnt2 T C 11: 22,786,621 (GRCm39) D189G probably damaging Het
Bcam G A 7: 19,494,274 (GRCm39) T374M probably benign Het
Blm T C 7: 80,155,674 (GRCm39) D335G probably benign Het
Cbfa2t2 T C 2: 154,359,727 (GRCm39) L264P probably damaging Het
Col4a2 T C 8: 11,495,086 (GRCm39) F1515L probably benign Het
Csf2ra T G 19: 61,215,331 (GRCm39) M95L probably benign Het
Cyp2c70 T A 19: 40,152,856 (GRCm39) T300S possibly damaging Het
Cyp4f15 A T 17: 32,921,133 (GRCm39) H440L probably damaging Het
Dcaf1 T A 9: 106,716,287 (GRCm39) D360E probably benign Het
Ddr2 T C 1: 169,812,537 (GRCm39) M652V probably damaging Het
Dnah2 T A 11: 69,327,896 (GRCm39) I3370F probably damaging Het
Dpysl5 G A 5: 30,948,941 (GRCm39) D399N probably damaging Het
Efemp1 G T 11: 28,871,613 (GRCm39) R376L probably damaging Het
Efl1 A C 7: 82,402,917 (GRCm39) D673A probably damaging Het
Eid1 A G 2: 125,515,121 (GRCm39) M4V probably benign Het
Emc10 G A 7: 44,142,616 (GRCm39) R109W probably damaging Het
Emilin3 G A 2: 160,751,530 (GRCm39) R170C possibly damaging Het
Erap1 T C 13: 74,812,270 (GRCm39) W362R probably damaging Het
Fam234a A G 17: 26,437,290 (GRCm39) F91L probably benign Het
Flnc G A 6: 29,443,796 (GRCm39) probably null Het
Fsip2 A G 2: 82,813,076 (GRCm39) K3132E possibly damaging Het
Garin5b A T 7: 4,762,397 (GRCm39) I244N probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gnl3 A G 14: 30,738,326 (GRCm39) probably null Het
Has1 A T 17: 18,068,532 (GRCm39) I274N probably damaging Het
Ift70a1 A G 2: 75,811,801 (GRCm39) L94P probably benign Het
Itsn1 T C 16: 91,702,389 (GRCm39) probably null Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kif13a T C 13: 46,964,275 (GRCm39) D475G probably benign Het
Klhl20 A T 1: 160,930,608 (GRCm39) M298K probably damaging Het
Kynu G T 2: 43,494,289 (GRCm39) G241* probably null Het
Lrif1 G T 3: 106,639,522 (GRCm39) L202F possibly damaging Het
Lrp5 T C 19: 3,660,056 (GRCm39) K1003E probably benign Het
Mamdc2 T C 19: 23,311,393 (GRCm39) D487G probably damaging Het
Mapk8ip1 A G 2: 92,221,379 (GRCm39) probably null Het
Mettl25 T A 10: 105,633,167 (GRCm39) E425D probably benign Het
Midn G T 10: 79,985,949 (GRCm39) R13L possibly damaging Het
Mtmr9 T C 14: 63,777,713 (GRCm39) Y136C possibly damaging Het
Mylk G A 16: 34,817,187 (GRCm39) V61M probably damaging Het
Nalcn T C 14: 123,831,993 (GRCm39) probably null Het
Nle1 G T 11: 82,796,373 (GRCm39) P166Q probably damaging Het
Nr4a3 G A 4: 48,083,252 (GRCm39) C595Y probably damaging Het
Or10d4 A G 9: 39,580,851 (GRCm39) Y166C probably damaging Het
Or4g7 G T 2: 111,309,532 (GRCm39) M134I probably benign Het
Or4l15 A G 14: 50,197,959 (GRCm39) I190T probably benign Het
Or5w1b C T 2: 87,476,396 (GRCm39) V24M probably benign Het
Or8b1 A T 9: 38,399,309 (GRCm39) probably null Het
Pds5a T A 5: 65,805,350 (GRCm39) probably null Het
Pitpnm1 T C 19: 4,161,873 (GRCm39) V955A probably benign Het
Plcb1 T A 2: 135,204,340 (GRCm39) I898N possibly damaging Het
Plcl2 G A 17: 50,913,722 (GRCm39) V244M probably damaging Het
Plk1 A G 7: 121,761,663 (GRCm39) K257R probably damaging Het
Prkcg A T 7: 3,372,066 (GRCm39) T460S probably damaging Het
Prss35 A G 9: 86,637,565 (GRCm39) S112G probably benign Het
Ptprj C T 2: 90,294,958 (GRCm39) V417M probably damaging Het
Pwwp2b A T 7: 138,836,067 (GRCm39) I503F possibly damaging Het
Rasgrp2 T C 19: 6,463,195 (GRCm39) V498A probably benign Het
Sall1 A G 8: 89,755,037 (GRCm39) V1314A probably benign Het
Sema6c A G 3: 95,078,545 (GRCm39) I549V probably benign Het
Slc17a1 A G 13: 24,062,522 (GRCm39) S230G probably benign Het
Slc5a4a T G 10: 75,989,414 (GRCm39) F106V probably benign Het
Stat6 T C 10: 127,486,665 (GRCm39) L147P probably damaging Het
Taar7d T A 10: 23,903,642 (GRCm39) S175T probably benign Het
Tasor2 A T 13: 3,626,770 (GRCm39) I1060K probably benign Het
Tmem132b A G 5: 125,700,080 (GRCm39) Q206R probably benign Het
Tmem229a T C 6: 24,955,061 (GRCm39) D231G probably benign Het
Trim66 A G 7: 109,071,439 (GRCm39) probably null Het
Ttll9 A T 2: 152,844,214 (GRCm39) E374V probably damaging Het
Vmn2r69 A T 7: 85,056,493 (GRCm39) D548E probably damaging Het
Zcchc2 T A 1: 105,931,851 (GRCm39) probably null Het
Zfp282 T A 6: 47,874,721 (GRCm39) probably null Het
Zfp352 A G 4: 90,113,408 (GRCm39) E516G probably benign Het
Other mutations in Prl7d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01390:Prl7d1 APN 13 27,894,149 (GRCm39) missense possibly damaging 0.91
IGL01735:Prl7d1 APN 13 27,898,372 (GRCm39) missense possibly damaging 0.83
IGL02139:Prl7d1 APN 13 27,896,066 (GRCm39) missense probably damaging 1.00
PIT4305001:Prl7d1 UTSW 13 27,898,320 (GRCm39) missense possibly damaging 0.90
PIT4531001:Prl7d1 UTSW 13 27,894,161 (GRCm39) missense probably damaging 1.00
R0555:Prl7d1 UTSW 13 27,896,038 (GRCm39) missense probably benign 0.13
R0625:Prl7d1 UTSW 13 27,894,123 (GRCm39) missense probably benign 0.10
R0631:Prl7d1 UTSW 13 27,894,165 (GRCm39) missense probably benign 0.32
R0837:Prl7d1 UTSW 13 27,898,321 (GRCm39) missense probably benign 0.06
R1403:Prl7d1 UTSW 13 27,893,180 (GRCm39) missense possibly damaging 0.89
R1403:Prl7d1 UTSW 13 27,893,180 (GRCm39) missense possibly damaging 0.89
R1459:Prl7d1 UTSW 13 27,893,240 (GRCm39) missense possibly damaging 0.81
R1643:Prl7d1 UTSW 13 27,896,114 (GRCm39) missense possibly damaging 0.53
R1691:Prl7d1 UTSW 13 27,893,365 (GRCm39) missense probably damaging 0.97
R3873:Prl7d1 UTSW 13 27,900,651 (GRCm39) start codon destroyed probably null 0.92
R3874:Prl7d1 UTSW 13 27,900,651 (GRCm39) start codon destroyed probably null 0.92
R5251:Prl7d1 UTSW 13 27,893,227 (GRCm39) missense probably benign 0.33
R5275:Prl7d1 UTSW 13 27,893,230 (GRCm39) missense probably damaging 0.99
R5295:Prl7d1 UTSW 13 27,893,230 (GRCm39) missense probably damaging 0.99
R5398:Prl7d1 UTSW 13 27,894,057 (GRCm39) missense probably damaging 1.00
R6798:Prl7d1 UTSW 13 27,893,380 (GRCm39) critical splice acceptor site probably null
R6818:Prl7d1 UTSW 13 27,898,454 (GRCm39) missense probably benign 0.07
R6825:Prl7d1 UTSW 13 27,894,125 (GRCm39) missense probably benign 0.01
R7478:Prl7d1 UTSW 13 27,894,168 (GRCm39) nonsense probably null
R7795:Prl7d1 UTSW 13 27,893,263 (GRCm39) missense probably damaging 1.00
R7995:Prl7d1 UTSW 13 27,894,054 (GRCm39) missense probably benign
R8193:Prl7d1 UTSW 13 27,893,230 (GRCm39) missense
R9313:Prl7d1 UTSW 13 27,893,182 (GRCm39) missense probably benign
R9424:Prl7d1 UTSW 13 27,894,185 (GRCm39) missense probably benign 0.00
R9430:Prl7d1 UTSW 13 27,898,360 (GRCm39) missense possibly damaging 0.80
R9733:Prl7d1 UTSW 13 27,898,339 (GRCm39) missense probably benign 0.00
R9758:Prl7d1 UTSW 13 27,893,260 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- CTCTGTGCATATCTTGTAATGGAGAG -3'
(R):5'- CCATTAGGATAGCACATAGCTGTG -3'

Sequencing Primer
(F):5'- GCCTAACTTTTGATCTTGCAAAGTG -3'
(R):5'- GCCACATGTAAATAATGCTC -3'
Posted On 2014-08-25