Incidental Mutation 'R6156:Pih1d2'
ID 489592
Institutional Source Beutler Lab
Gene Symbol Pih1d2
Ensembl Gene ENSMUSG00000000167
Gene Name PIH1 domain containing 2
Synonyms 2700059L22Rik
MMRRC Submission 044303-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R6156 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 50528621-50536300 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50532452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 186 (K186I)
Ref Sequence ENSEMBL: ENSMUSP00000122789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000171] [ENSMUST00000125606] [ENSMUST00000131351] [ENSMUST00000132187] [ENSMUST00000141366] [ENSMUST00000151197] [ENSMUST00000145139] [ENSMUST00000171462] [ENSMUST00000155435] [ENSMUST00000147671]
AlphaFold Q8CHR9
Predicted Effect possibly damaging
Transcript: ENSMUST00000000171
AA Change: K170I

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000000171
Gene: ENSMUSG00000000167
AA Change: K170I

DomainStartEndE-ValueType
Pfam:PIH1 19 314 4.1e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124029
Predicted Effect probably benign
Transcript: ENSMUST00000125606
SMART Domains Protein: ENSMUSP00000121100
Gene: ENSMUSG00000000167

DomainStartEndE-ValueType
Pfam:PIH1 19 140 2.1e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131351
SMART Domains Protein: ENSMUSP00000123319
Gene: ENSMUSG00000059820

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
low complexity region 198 216 N/A INTRINSIC
low complexity region 224 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132187
SMART Domains Protein: ENSMUSP00000118064
Gene: ENSMUSG00000000167

DomainStartEndE-ValueType
Pfam:PIH1 19 92 1.7e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000141366
AA Change: K186I

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122789
Gene: ENSMUSG00000000167
AA Change: K186I

DomainStartEndE-ValueType
Pfam:PIH1 35 198 2.6e-47 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000151197
AA Change: K170I

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119253
Gene: ENSMUSG00000000167
AA Change: K170I

DomainStartEndE-ValueType
Pfam:PIH1 19 235 1.7e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155773
Predicted Effect probably benign
Transcript: ENSMUST00000145139
Predicted Effect probably benign
Transcript: ENSMUST00000171462
SMART Domains Protein: ENSMUSP00000133259
Gene: ENSMUSG00000059820

DomainStartEndE-ValueType
Pfam:NKAP 86 163 5.2e-26 PFAM
low complexity region 198 216 N/A INTRINSIC
low complexity region 224 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155435
SMART Domains Protein: ENSMUSP00000121198
Gene: ENSMUSG00000059820

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
low complexity region 198 214 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147671
SMART Domains Protein: ENSMUSP00000117265
Gene: ENSMUSG00000059820

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,689,488 (GRCm39) probably null Het
Ank2 T C 3: 126,737,886 (GRCm39) D2579G probably damaging Het
Atp6v1b1 G C 6: 83,735,115 (GRCm39) G423R probably damaging Het
B4galnt3 T C 6: 120,191,801 (GRCm39) N644S probably benign Het
Bhmt1b C A 18: 87,775,231 (GRCm39) Y251* probably null Het
Capsl T G 15: 9,465,920 (GRCm39) M132R probably damaging Het
Cep120 A G 18: 53,836,295 (GRCm39) Y797H probably benign Het
Cimip4 T C 15: 78,263,013 (GRCm39) T214A probably damaging Het
Clec2e T A 6: 129,072,061 (GRCm39) D106V possibly damaging Het
Col6a2 C T 10: 76,440,004 (GRCm39) V634I possibly damaging Het
Dis3 T C 14: 99,336,215 (GRCm39) E97G probably benign Het
Dlec1 T C 9: 118,939,281 (GRCm39) probably null Het
Dock2 C A 11: 34,197,789 (GRCm39) V1484F possibly damaging Het
Ephb2 T A 4: 136,388,816 (GRCm39) M593L probably benign Het
Fcgrt T C 7: 44,751,484 (GRCm39) T125A probably benign Het
Gabbr1 T C 17: 37,359,319 (GRCm39) I98T probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gfod1 T C 13: 43,354,514 (GRCm39) S154G possibly damaging Het
Ggt5 C T 10: 75,445,160 (GRCm39) T389I probably damaging Het
Got2 A G 8: 96,598,896 (GRCm39) F169L probably benign Het
Gse1 A G 8: 121,215,866 (GRCm39) K5E possibly damaging Het
Hyal5 T C 6: 24,891,437 (GRCm39) I417T possibly damaging Het
Igkv4-91 G T 6: 68,745,607 (GRCm39) T97K probably damaging Het
Il4i1 T C 7: 44,489,608 (GRCm39) Y458H possibly damaging Het
Impg1 A T 9: 80,230,106 (GRCm39) C740S probably damaging Het
Itgb1 C G 8: 129,458,535 (GRCm39) T788R possibly damaging Het
Lman2l A G 1: 36,477,907 (GRCm39) V143A probably damaging Het
Ltbp4 G T 7: 27,029,587 (GRCm39) T136K unknown Het
Macf1 A G 4: 123,366,073 (GRCm39) I1331T probably benign Het
Mmp11 G A 10: 75,762,325 (GRCm39) A336V probably damaging Het
Myh2 A T 11: 67,071,879 (GRCm39) I536F probably damaging Het
Myh4 A G 11: 67,141,618 (GRCm39) M826V probably benign Het
Naca T C 10: 127,875,160 (GRCm39) probably benign Het
Nr4a2 A G 2: 57,002,364 (GRCm39) Y30H probably damaging Het
Or12j4 A G 7: 140,046,758 (GRCm39) T215A probably benign Het
Or1e35 A T 11: 73,797,447 (GRCm39) Y290* probably null Het
Or2n1d T A 17: 38,646,064 (GRCm39) N5K probably damaging Het
Or4a67 T A 2: 88,597,934 (GRCm39) I242L probably benign Het
Or4f14d A T 2: 111,960,445 (GRCm39) L237Q probably damaging Het
Or4k42 A T 2: 111,320,095 (GRCm39) M136K probably damaging Het
Or4z4 A G 19: 12,076,484 (GRCm39) V173A possibly damaging Het
Or8g22 T A 9: 38,958,671 (GRCm39) M15L possibly damaging Het
Paqr3 A C 5: 97,256,128 (GRCm39) L82R probably damaging Het
Pex6 C T 17: 47,031,567 (GRCm39) P456S probably benign Het
Plekhh3 A G 11: 101,061,013 (GRCm39) probably benign Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Rcor3 T A 1: 191,812,142 (GRCm39) probably benign Het
Rgs11 T A 17: 26,429,439 (GRCm39) Y403* probably null Het
Scn10a T C 9: 119,464,649 (GRCm39) N984D probably benign Het
Snx14 C T 9: 88,289,392 (GRCm39) A287T possibly damaging Het
Stx3 T C 19: 11,780,874 (GRCm39) D33G probably damaging Het
Tacc2 A G 7: 130,227,494 (GRCm39) K1393R probably damaging Het
Tas2r129 T C 6: 132,928,455 (GRCm39) S131P probably benign Het
Tbx15 G T 3: 99,220,431 (GRCm39) probably null Het
Thada A G 17: 84,700,795 (GRCm39) V1237A probably damaging Het
Tnc A G 4: 63,888,589 (GRCm39) Y1735H probably damaging Het
Ttc22 A G 4: 106,495,780 (GRCm39) K378R probably benign Het
Tubg2 A G 11: 101,051,635 (GRCm39) K287E possibly damaging Het
Ugt3a1 T C 15: 9,310,762 (GRCm39) I348T possibly damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Unc80 A T 1: 66,651,409 (GRCm39) I1585F probably benign Het
Vmn2r104 T C 17: 20,261,909 (GRCm39) Y407C probably damaging Het
Vmn2r108 T A 17: 20,692,447 (GRCm39) L136F probably benign Het
Vmn2r38 A G 7: 9,097,611 (GRCm39) S161P probably damaging Het
Vmn2r90 T C 17: 17,953,606 (GRCm39) I590T probably benign Het
Washc5 T C 15: 59,217,248 (GRCm39) E323G probably damaging Het
Wdhd1 C T 14: 47,505,653 (GRCm39) G273D probably damaging Het
Xpo6 G T 7: 125,708,016 (GRCm39) Q851K probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Zfp536 A G 7: 37,173,281 (GRCm39) C274R unknown Het
Zfp64 A G 2: 168,768,088 (GRCm39) I508T probably benign Het
Other mutations in Pih1d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01819:Pih1d2 APN 9 50,533,177 (GRCm39) missense probably benign 0.09
FR4449:Pih1d2 UTSW 9 50,532,927 (GRCm39) frame shift probably null
R0390:Pih1d2 UTSW 9 50,532,346 (GRCm39) missense probably damaging 1.00
R0443:Pih1d2 UTSW 9 50,532,403 (GRCm39) missense possibly damaging 0.46
R1570:Pih1d2 UTSW 9 50,532,479 (GRCm39) missense probably benign 0.06
R1874:Pih1d2 UTSW 9 50,532,245 (GRCm39) missense possibly damaging 0.68
R2207:Pih1d2 UTSW 9 50,532,379 (GRCm39) missense probably benign 0.17
R4667:Pih1d2 UTSW 9 50,532,252 (GRCm39) nonsense probably null
R5806:Pih1d2 UTSW 9 50,529,750 (GRCm39) unclassified probably benign
R5811:Pih1d2 UTSW 9 50,532,374 (GRCm39) missense probably damaging 1.00
R5949:Pih1d2 UTSW 9 50,536,284 (GRCm39) missense probably damaging 1.00
R6416:Pih1d2 UTSW 9 50,529,909 (GRCm39) missense probably benign 0.00
R6711:Pih1d2 UTSW 9 50,529,310 (GRCm39) start codon destroyed probably null
R7052:Pih1d2 UTSW 9 50,533,077 (GRCm39) missense probably damaging 1.00
R7557:Pih1d2 UTSW 9 50,536,216 (GRCm39) missense probably damaging 0.99
R7661:Pih1d2 UTSW 9 50,529,558 (GRCm39) critical splice donor site probably null
R7770:Pih1d2 UTSW 9 50,533,101 (GRCm39) missense not run
R8295:Pih1d2 UTSW 9 50,532,379 (GRCm39) missense probably damaging 1.00
R8978:Pih1d2 UTSW 9 50,536,232 (GRCm39) missense probably benign 0.43
R9147:Pih1d2 UTSW 9 50,532,321 (GRCm39) missense possibly damaging 0.91
R9401:Pih1d2 UTSW 9 50,529,905 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCCTGGTGTTCTGCAAGCG -3'
(R):5'- AATCTGCTTGGGTTCCTGC -3'

Sequencing Primer
(F):5'- CAAGCGGCAGAAAAAGACC -3'
(R):5'- GTTGACATCTTCCTGGATACTTTGAC -3'
Posted On 2017-10-10