Mutagenetix > Incidental Mutation

Incidental Mutation 'R2207:Pih1d2'

239149

Institutional Source

Beutler Lab

Gene Symbol

Pih1d2

Ensembl Gene

ENSMUSG00000000167

Gene Name

PIH1 domain containing 2

Synonyms

2700059L22Rik

MMRRC Submission

040209-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R2207 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50528621-50536300 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 50532379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 162 (H162N)

Ref Sequence

ENSEMBL: ENSMUSP00000122789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000171] [ENSMUST00000125606] [ENSMUST00000131351] [ENSMUST00000132187] [ENSMUST00000141366] [ENSMUST00000145139] [ENSMUST00000151197] [ENSMUST00000171462] [ENSMUST00000155435] [ENSMUST00000147671]

AlphaFold

Q8CHR9

Predicted Effect

probably benign
Transcript: ENSMUST00000000171
AA Change: H146N

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000000171
Gene: ENSMUSG00000000167
AA Change: H146N

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:PIH1	19	140	2.1e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131351

SMART Domains

Protein: ENSMUSP00000123319
Gene: ENSMUSG00000059820

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:PIH1	19	92	1.7e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141366
AA Change: H162N

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000122789
Gene: ENSMUSG00000000167
AA Change: H162N

Domain	Start	End	E-Value	Type
Pfam:PIH1	35	198	2.6e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145139

Predicted Effect

probably benign
Transcript: ENSMUST00000151197
AA Change: H146N

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000119253
Gene: ENSMUSG00000000167
AA Change: H146N

Domain	Start	End	E-Value	Type
Pfam:PIH1	19	235	1.7e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155773

Predicted Effect

probably benign
Transcript: ENSMUST00000171462

SMART Domains

Protein: ENSMUSP00000133259
Gene: ENSMUSG00000059820

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	142	175	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	A	G	17: 37,288,965 (GRCm39)		probably benign	Het
Abcb1b	C	T	5: 8,874,803 (GRCm39)	R488C	probably benign	Het
Adam34	T	C	8: 44,105,274 (GRCm39)	I124V	probably benign	Het
Aicda	T	A	6: 122,538,244 (GRCm39)	V134D	possibly damaging	Het
Akt2	T	A	7: 27,336,625 (GRCm39)		probably null	Het
Aldh1a3	T	C	7: 66,055,769 (GRCm39)	R341G	probably damaging	Het
Ankrd12	G	T	17: 66,338,569 (GRCm39)		probably null	Het
Anxa11	A	G	14: 25,874,721 (GRCm39)	Y244C	probably damaging	Het
Atp2c2	G	A	8: 120,475,048 (GRCm39)	R551Q	probably damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bcl11a	G	T	11: 24,113,343 (GRCm39)	G229W	probably damaging	Het
Brip1	A	G	11: 85,952,703 (GRCm39)	V1026A	probably benign	Het
Cacna1h	A	T	17: 25,603,987 (GRCm39)	S1282T	probably benign	Het
Calcr	T	C	6: 3,717,133 (GRCm39)	Y109C	probably damaging	Het
Ccdc39	T	C	3: 33,890,882 (GRCm39)	I241V	probably damaging	Het
Ccdc9	A	G	7: 16,018,194 (GRCm39)		probably benign	Het
Cdk17	G	A	10: 93,064,624 (GRCm39)	D298N	probably damaging	Het
Cdkl3	A	G	11: 51,918,020 (GRCm39)	*354W	probably null	Het
Celf6	A	T	9: 59,511,610 (GRCm39)	Y401F	possibly damaging	Het
Clec4a4	C	T	6: 122,990,766 (GRCm39)	L169F	probably damaging	Het
Col14a1	T	C	15: 55,327,082 (GRCm39)	F1411L	unknown	Het
Col4a2	G	T	8: 11,493,352 (GRCm39)	G1354W	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cst13	A	T	2: 148,665,202 (GRCm39)	R66W	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Dhx8	A	G	11: 101,641,797 (GRCm39)	T632A	probably benign	Het
Disp1	A	G	1: 182,869,906 (GRCm39)	F838S	possibly damaging	Het
Dlg1	A	G	16: 31,672,664 (GRCm39)	H599R	probably benign	Het
Dnah12	T	A	14: 26,503,744 (GRCm39)	V1654E	probably damaging	Het
Dnah5	C	T	15: 28,343,817 (GRCm39)	L2406F	probably benign	Het
Fam98b	C	G	2: 117,098,300 (GRCm39)	R257G	probably damaging	Het
Fbn2	A	T	18: 58,214,471 (GRCm39)	C900*	probably null	Het
Fgf1	A	G	18: 38,980,138 (GRCm39)	Y79H	possibly damaging	Het
Foxn1	C	A	11: 78,249,630 (GRCm39)	A632S	probably benign	Het
Fsip2	T	G	2: 82,807,823 (GRCm39)	S1381A	probably benign	Het
Gtf2b	G	A	3: 142,484,081 (GRCm39)	G85D	probably benign	Het
Gyg1	C	A	3: 20,204,703 (GRCm39)	G161C	probably damaging	Het
Hemgn	G	T	4: 46,396,301 (GRCm39)	L312I	possibly damaging	Het
Hic2	T	C	16: 17,075,324 (GRCm39)	M51T	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hpx	C	T	7: 105,241,633 (GRCm39)	R287H	probably damaging	Het
Igf2bp3	C	T	6: 49,065,488 (GRCm39)	G468E	possibly damaging	Het
Il5ra	C	A	6: 106,689,402 (GRCm39)	E397*	probably null	Het
Itfg1	A	T	8: 86,502,827 (GRCm39)	S246R	probably benign	Het
Kdm2a	A	T	19: 4,412,898 (GRCm39)	D29E	probably damaging	Het
Lamc2	T	G	1: 153,009,452 (GRCm39)	E784D	possibly damaging	Het
Lrp2	A	T	2: 69,297,372 (GRCm39)	N3196K	possibly damaging	Het
Lyzl1	T	A	18: 4,181,962 (GRCm39)	C96*	probably null	Het
Maf1	A	G	15: 76,236,718 (GRCm39)	T17A	probably benign	Het
Map1b	T	C	13: 99,567,591 (GRCm39)	D1710G	unknown	Het
Megf8	C	T	7: 25,049,222 (GRCm39)	T1773I	probably damaging	Het
Mei1	T	C	15: 81,987,450 (GRCm39)	M414T	probably benign	Het
Myo15a	A	G	11: 60,396,860 (GRCm39)	N2643S	probably benign	Het
Ndufa9	A	G	6: 126,821,772 (GRCm39)	Y64H	probably damaging	Het
Neb	A	T	2: 52,101,579 (GRCm39)	L4354*	probably null	Het
Nom1	T	A	5: 29,644,972 (GRCm39)	I480N	probably damaging	Het
Nrxn3	C	T	12: 89,315,082 (GRCm39)	T331M	probably damaging	Het
Or1a1	G	T	11: 74,087,150 (GRCm39)	V274L	possibly damaging	Het
Or1j16	G	T	2: 36,530,201 (GRCm39)	R50M	possibly damaging	Het
Or4f14b	A	C	2: 111,775,270 (GRCm39)	F177C	probably damaging	Het
Or51a42	A	G	7: 103,708,612 (GRCm39)	S66P	probably damaging	Het
Pcdhb15	A	T	18: 37,608,075 (GRCm39)	T436S	probably benign	Het
Pcdhb18	T	A	18: 37,624,342 (GRCm39)	N557K	probably damaging	Het
Pcdhb6	T	C	18: 37,468,633 (GRCm39)	M518T	probably benign	Het
Pgm2l1	T	A	7: 99,917,319 (GRCm39)		probably null	Het
Pitrm1	T	A	13: 6,619,327 (GRCm39)	Y721N	probably damaging	Het
Pla2r1	C	A	2: 60,288,779 (GRCm39)	V618F	probably damaging	Het
Plb1	T	C	5: 32,473,984 (GRCm39)	S599P	possibly damaging	Het
Prkg1	T	C	19: 30,556,260 (GRCm39)	D562G	probably damaging	Het
Proser1	T	G	3: 53,385,812 (GRCm39)	S565A	probably benign	Het
Prx	T	A	7: 27,216,213 (GRCm39)	V238E	probably damaging	Het
Psapl1	T	C	5: 36,362,509 (GRCm39)	I367T	probably damaging	Het
Rc3h1	T	C	1: 160,767,595 (GRCm39)	V128A	probably damaging	Het
Rrm1	T	A	7: 102,091,233 (GRCm39)	M1K	probably null	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsl1	A	G	13: 67,330,892 (GRCm39)	T447A	probably benign	Het
Ryr2	A	G	13: 11,825,823 (GRCm39)	S552P	probably damaging	Het
Sbf1	A	G	15: 89,190,896 (GRCm39)	S225P	possibly damaging	Het
Serpina3c	T	A	12: 104,117,757 (GRCm39)	I194F	probably benign	Het
Setd3	C	T	12: 108,073,544 (GRCm39)	V578M	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc6a1	T	A	6: 114,285,632 (GRCm39)	V356E	probably damaging	Het
Slfn1	A	G	11: 83,011,992 (GRCm39)	E36G	possibly damaging	Het
Sorcs1	T	C	19: 50,218,655 (GRCm39)	H609R	possibly damaging	Het
Spag16	A	G	1: 70,764,043 (GRCm39)	H621R	probably benign	Het
Spata31d1e	A	G	13: 59,890,920 (GRCm39)	V300A	probably benign	Het
Tg	G	A	15: 66,553,788 (GRCm39)	G401D	probably benign	Het
Tnxb	A	C	17: 34,928,391 (GRCm39)	T2602P	possibly damaging	Het
Trip11	T	C	12: 101,839,701 (GRCm39)	N1643S	probably benign	Het
Ttn	G	A	2: 76,709,687 (GRCm39)	R1581*	probably null	Het
Ttn	A	T	2: 76,796,155 (GRCm39)	I590K	probably benign	Het
Vmn1r225	A	G	17: 20,722,611 (GRCm39)	I17M	possibly damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Wdr7	T	A	18: 63,910,678 (GRCm39)	V690E	possibly damaging	Het
Xaf1	A	T	11: 72,194,228 (GRCm39)	E36D	possibly damaging	Het
Zfp131	A	T	13: 120,237,348 (GRCm39)	F303I	probably damaging	Het
Zfp513	T	G	5: 31,357,767 (GRCm39)	K202T	probably damaging	Het
Zfp788	A	T	7: 41,299,064 (GRCm39)	I567F	probably damaging	Het
Zfyve26	A	G	12: 79,292,861 (GRCm39)	V2096A	probably damaging	Het

Other mutations in Pih1d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R6156:Pih1d2	UTSW	9	50,532,452 (GRCm39)	missense	possibly damaging	0.88
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'- GATGGAATCTGTCGCTTGCAAC -3'
(R):5'- TGGGCTACAAACCCAGAATCTG -3'

Sequencing Primer
(F):5'- AACTTTGCTAATATGGGTTGGTATAC -3'
(R):5'- AGAATCTGCCATCACTTCATTTTCAG -3'

Posted On

2014-10-02