Incidental Mutation 'R0515:Prl8a8'
ID 48193
Institutional Source Beutler Lab
Gene Symbol Prl8a8
Ensembl Gene ENSMUSG00000021346
Gene Name prolactin family 8, subfamily a, member 81
Synonyms 1600032B14Rik, Prlpc3, PLP-Cgamma
MMRRC Submission 038709-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R0515 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 27690951-27697200 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 27692350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 214 (I214L)
Ref Sequence ENSEMBL: ENSMUSP00000153520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018389] [ENSMUST00000110350] [ENSMUST00000223621] [ENSMUST00000224072]
AlphaFold Q9DAS4
Predicted Effect possibly damaging
Transcript: ENSMUST00000018389
AA Change: I175L

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000018389
Gene: ENSMUSG00000021346
AA Change: I175L

DomainStartEndE-ValueType
Pfam:Hormone_1 16 240 2.8e-54 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110350
AA Change: I176L

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105979
Gene: ENSMUSG00000021346
AA Change: I176L

DomainStartEndE-ValueType
Pfam:Hormone_1 17 241 3.1e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000223621
AA Change: I214L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224072
AA Change: I213L

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
App C T 16: 84,900,232 (GRCm39) probably benign Het
Arhgap11a G A 2: 113,667,816 (GRCm39) T395I possibly damaging Het
Arhgef38 T G 3: 132,855,301 (GRCm39) H262P probably damaging Het
Cd96 A G 16: 45,884,268 (GRCm39) probably benign Het
Cfap57 A G 4: 118,477,599 (GRCm39) S2P probably damaging Het
Cltc A G 11: 86,599,865 (GRCm39) S948P probably benign Het
Cyp3a41a A T 5: 145,654,810 (GRCm39) H30Q probably damaging Het
Dcp2 C T 18: 44,532,798 (GRCm39) L105F probably benign Het
Dennd4c T C 4: 86,731,703 (GRCm39) V887A possibly damaging Het
Dnaaf9 A G 2: 130,582,408 (GRCm39) V515A probably damaging Het
Gm11360 T A 13: 28,140,143 (GRCm39) D2E probably damaging Het
Gpank1 G T 17: 35,342,475 (GRCm39) A149S probably damaging Het
Gtf2i C A 5: 134,271,773 (GRCm39) S792I probably damaging Het
Hvcn1 A G 5: 122,371,582 (GRCm39) N41D probably damaging Het
Klk1b5 A G 7: 43,867,957 (GRCm39) Y43C probably damaging Het
Lmtk2 A G 5: 144,111,809 (GRCm39) D843G possibly damaging Het
Lrriq1 A T 10: 102,904,829 (GRCm39) probably null Het
Mapk8ip1 A T 2: 92,217,701 (GRCm39) I198N possibly damaging Het
Mill1 T C 7: 17,998,798 (GRCm39) V336A probably benign Het
Mroh7 T A 4: 106,548,861 (GRCm39) M1001L probably benign Het
Nfe2 T A 15: 103,157,854 (GRCm39) T46S probably null Het
Or8b40 T C 9: 38,027,313 (GRCm39) S74P probably damaging Het
Or9q1 T C 19: 13,805,185 (GRCm39) S192G probably damaging Het
Parp4 T C 14: 56,851,124 (GRCm39) V709A probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Prex2 A T 1: 11,270,098 (GRCm39) Q1261L probably damaging Het
Rictor C T 15: 6,798,782 (GRCm39) T343M probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Siglecf T C 7: 43,005,055 (GRCm39) probably null Het
Slco1b2 T C 6: 141,615,136 (GRCm39) F347S possibly damaging Het
Sox13 A T 1: 133,311,457 (GRCm39) Y592N probably damaging Het
Synj1 C T 16: 90,790,910 (GRCm39) A84T possibly damaging Het
Tent5b A T 4: 133,213,450 (GRCm39) H107L possibly damaging Het
Trpv5 T A 6: 41,651,145 (GRCm39) probably benign Het
Tshz1 A G 18: 84,034,090 (GRCm39) V106A probably benign Het
Other mutations in Prl8a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Prl8a8 APN 13 27,693,593 (GRCm39) missense probably damaging 0.96
R0117:Prl8a8 UTSW 13 27,692,473 (GRCm39) missense probably damaging 1.00
R0602:Prl8a8 UTSW 13 27,692,533 (GRCm39) splice site probably benign
R0708:Prl8a8 UTSW 13 27,695,528 (GRCm39) missense possibly damaging 0.64
R1824:Prl8a8 UTSW 13 27,692,433 (GRCm39) missense probably damaging 1.00
R3416:Prl8a8 UTSW 13 27,695,532 (GRCm39) missense probably damaging 1.00
R4432:Prl8a8 UTSW 13 27,694,463 (GRCm39) missense probably benign 0.41
R6107:Prl8a8 UTSW 13 27,695,447 (GRCm39) missense possibly damaging 0.70
R6146:Prl8a8 UTSW 13 27,694,463 (GRCm39) missense probably damaging 1.00
R6398:Prl8a8 UTSW 13 27,692,412 (GRCm39) missense probably damaging 1.00
R6493:Prl8a8 UTSW 13 27,691,335 (GRCm39) nonsense probably null
R7069:Prl8a8 UTSW 13 27,695,450 (GRCm39) missense probably benign 0.30
R7104:Prl8a8 UTSW 13 27,695,479 (GRCm39) missense probably damaging 1.00
R7493:Prl8a8 UTSW 13 27,695,418 (GRCm39) splice site probably null
R8147:Prl8a8 UTSW 13 27,695,564 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGAGATGCCAGCAACCTATTAGGA -3'
(R):5'- CATGTCTCAGTTCGGCTTCTTTACATGA -3'

Sequencing Primer
(F):5'- tctaaaactttctaatgctatgaccc -3'
(R):5'- CAGGTATCAAACCTGCTAAACTG -3'
Posted On 2013-06-12