Mutagenetix > Incidental Mutation

Incidental Mutation 'R5331:Hepacam2'

423227

Institutional Source

Beutler Lab

Gene Symbol

Hepacam2

Ensembl Gene

ENSMUSG00000044156

Gene Name

HEPACAM family member 2

Synonyms

MMRRC Submission

042913-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R5331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3457202-3498319 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3483377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 211 (T211A)

Ref Sequence

ENSEMBL: ENSMUSP00000058882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049985] [ENSMUST00000200854] [ENSMUST00000201607]

AlphaFold

Q4VAH7

Predicted Effect

probably benign
Transcript: ENSMUST00000049985
AA Change: T211A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000058882
Gene: ENSMUSG00000044156
AA Change: T211A

Domain	Start	End	E-Value	Type
IG	39	142	7.77e-1	SMART
IGc2	165	227	6.21e-9	SMART
IG	256	334	1.87e0	SMART
transmembrane domain	351	373	N/A	INTRINSIC
low complexity region	420	437	N/A	INTRINSIC

Predicted Effect

not run
Transcript: ENSMUST00000183736
AA Change: T135A

Predicted Effect

probably benign
Transcript: ENSMUST00000200854
AA Change: T135A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144362
Gene: ENSMUSG00000044156
AA Change: T135A

Domain	Start	End	E-Value	Type
IG_like	2	66	2.88e1	SMART
IGc2	89	151	6.21e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201276

Predicted Effect

probably benign
Transcript: ENSMUST00000201607
AA Change: T135A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143834
Gene: ENSMUSG00000044156
AA Change: T135A

Domain	Start	End	E-Value	Type
IG_like	2	66	1.2e-1	SMART
IGc2	89	151	2.5e-11	SMART
Blast:IG	180	206	9e-11	BLAST

Meta Mutation Damage Score

0.0878

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

100% (99/99)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein related to the immunoglobulin superfamily that plays a role in mitosis. Knockdown of this gene results in prometaphase arrest, abnormal nuclear morphology and apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes its translocation to centrosomes, which may stimulate centrosome maturation. A chromosomal deletion including this gene may be associated with myeloid leukemia and myelodysplastic syndrome in human patients. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,615,375 (GRCm39)	D83G	probably benign	Het
Ablim1	T	C	19: 57,143,681 (GRCm39)	T80A	probably damaging	Het
Adam6b	C	A	12: 113,454,200 (GRCm39)	P339H	possibly damaging	Het
Adgrb2	A	T	4: 129,915,995 (GRCm39)	H1505L	possibly damaging	Het
Ankrd46	G	A	15: 36,486,175 (GRCm39)	T26I	probably benign	Het
Bmpr1b	T	C	3: 141,562,176 (GRCm39)	N337S	probably damaging	Het
Ccdc47	C	T	11: 106,101,176 (GRCm39)	R162Q	probably benign	Het
Cct5	A	G	15: 31,594,448 (GRCm39)		probably benign	Het
Cdca2	T	C	14: 67,914,920 (GRCm39)	K780E	possibly damaging	Het
Cds1	T	C	5: 101,946,361 (GRCm39)	S187P	probably damaging	Het
Ces3a	G	A	8: 105,784,188 (GRCm39)	E416K	probably damaging	Het
Chd8	T	A	14: 52,439,571 (GRCm39)		probably benign	Het
Chuk	A	T	19: 44,067,394 (GRCm39)	V587E	probably damaging	Het
Clec16a	G	A	16: 10,549,543 (GRCm39)	C872Y	probably damaging	Het
Commd10	T	C	18: 47,093,497 (GRCm39)	V19A	probably damaging	Het
Ctsa	A	G	2: 164,676,229 (GRCm39)		probably benign	Het
Dnah6	T	A	6: 73,051,573 (GRCm39)	I3074F	probably damaging	Het
Dydc1	T	C	14: 40,804,320 (GRCm39)		probably null	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Elp1	T	C	4: 56,800,001 (GRCm39)	T42A	probably benign	Het
Enpp3	T	A	10: 24,684,058 (GRCm39)	N227I	probably damaging	Het
Fam131c	A	T	4: 141,110,141 (GRCm39)	T180S	probably benign	Het
Fam193a	C	A	5: 34,622,915 (GRCm39)		probably null	Het
Fbxo41	T	C	6: 85,456,888 (GRCm39)	E427G	probably benign	Het
Gabrr2	A	G	4: 33,082,583 (GRCm39)	K236E	possibly damaging	Het
Gm10152	A	T	7: 144,317,283 (GRCm39)		noncoding transcript	Het
Gm18025	C	T	12: 34,340,574 (GRCm39)	C173Y	probably benign	Het
Gm5414	C	A	15: 101,533,099 (GRCm39)	V443F	probably damaging	Het
Gm7334	T	C	17: 51,006,160 (GRCm39)	S149P	possibly damaging	Het
Gpaa1	T	A	15: 76,216,511 (GRCm39)		probably benign	Het
Grik2	G	A	10: 49,008,867 (GRCm39)	T740M	probably damaging	Het
Gvin3	T	C	7: 106,197,958 (GRCm39)		noncoding transcript	Het
Hdac5	T	C	11: 102,088,180 (GRCm39)	Y930C	probably damaging	Het
Herc4	G	T	10: 63,143,578 (GRCm39)	E703*	probably null	Het
Hras	T	C	7: 140,772,853 (GRCm39)	M1V	probably null	Het
Il23r	T	G	6: 67,400,479 (GRCm39)	Q617P	probably damaging	Het
Insc	T	A	7: 114,444,273 (GRCm39)	M420K	probably damaging	Het
Ints10	A	T	8: 69,273,472 (GRCm39)		probably null	Het
Kank1	A	G	19: 25,388,693 (GRCm39)	T789A	probably damaging	Het
Kat6a	T	A	8: 23,430,000 (GRCm39)	L1785Q	unknown	Het
Kcnj12	A	G	11: 60,961,012 (GRCm39)	K437E	probably benign	Het
Knl1	T	A	2: 118,900,736 (GRCm39)	D812E	possibly damaging	Het
Luc7l	C	A	17: 26,494,707 (GRCm39)	C104*	probably null	Het
Lurap1	G	A	4: 116,001,601 (GRCm39)	L31F	probably damaging	Het
Mia2	A	G	12: 59,142,598 (GRCm39)	S5G	probably benign	Het
Mon1b	C	T	8: 114,362,899 (GRCm39)	T49I	probably null	Het
Mrgprb3	T	C	7: 48,292,682 (GRCm39)	T290A	possibly damaging	Het
Ms4a20	A	G	19: 11,069,222 (GRCm39)		probably benign	Het
Mxd3	T	C	13: 55,477,071 (GRCm39)		probably benign	Het
Negr1	A	T	3: 156,774,913 (GRCm39)	K210*	probably null	Het
Nek7	A	T	1: 138,426,312 (GRCm39)		probably null	Het
Nktr	T	C	9: 121,581,834 (GRCm39)		probably benign	Het
Nrxn2	A	G	19: 6,540,111 (GRCm39)	T796A	probably damaging	Het
Nwd2	C	A	5: 63,963,859 (GRCm39)	L1148I	probably benign	Het
Or5d46	T	C	2: 88,170,332 (GRCm39)	L141P	probably damaging	Het
Osmr	G	C	15: 6,872,362 (GRCm39)	T244S	probably damaging	Het
Ovol3	T	C	7: 29,932,904 (GRCm39)	D177G	possibly damaging	Het
Pcdha4	G	A	18: 37,087,755 (GRCm39)	R646H	probably benign	Het
Pdilt	T	C	7: 119,114,147 (GRCm39)	E117G	possibly damaging	Het
Pecr	A	G	1: 72,314,005 (GRCm39)		probably benign	Het
Per3	G	T	4: 151,125,759 (GRCm39)	L187I	probably damaging	Het
Plcl2	G	A	17: 50,816,876 (GRCm39)	A81T	probably benign	Het
Polr2a	T	C	11: 69,638,101 (GRCm39)	N123D	probably benign	Het
Prex2	T	A	1: 11,210,235 (GRCm39)	D558E	possibly damaging	Het
Psma5	T	G	3: 108,175,386 (GRCm39)	V146G	possibly damaging	Het
Rgs11	A	T	17: 26,421,947 (GRCm39)	M1L	probably benign	Het
Rgsl1	T	C	1: 153,678,038 (GRCm39)	N130S	probably benign	Het
Rhbg	T	A	3: 88,152,775 (GRCm39)	T313S	probably benign	Het
Ripply2	T	A	9: 86,897,691 (GRCm39)		probably benign	Het
Scap	T	C	9: 110,210,701 (GRCm39)	V1011A	probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scarf1	G	A	11: 75,406,406 (GRCm39)	G230D	probably damaging	Het
Slc17a8	A	G	10: 89,425,356 (GRCm39)		probably null	Het
Slc22a14	A	T	9: 119,059,662 (GRCm39)	L153Q	probably damaging	Het
Slc22a27	A	G	19: 7,856,820 (GRCm39)	I406T	probably benign	Het
Slc30a6	A	G	17: 74,730,190 (GRCm39)	D355G	probably benign	Het
Socs7	A	G	11: 97,268,852 (GRCm39)	D382G	possibly damaging	Het
Sphkap	A	G	1: 83,254,503 (GRCm39)	V1082A	probably benign	Het
Stox2	G	A	8: 47,866,662 (GRCm39)		probably benign	Het
Tacc2	T	C	7: 130,335,258 (GRCm39)	S524P	probably damaging	Het
Tbc1d9b	C	T	11: 50,037,140 (GRCm39)	A263V	probably benign	Het
Tekt5	C	T	16: 10,179,193 (GRCm39)	M391I	probably benign	Het
Tfap2b	A	T	1: 19,296,722 (GRCm39)	M222L	probably benign	Het
Themis2	T	C	4: 132,510,244 (GRCm39)	D652G	possibly damaging	Het
Tmem185b	A	G	1: 119,455,322 (GRCm39)		probably benign	Het
Trpv4	A	G	5: 114,773,604 (GRCm39)	Y253H	probably damaging	Het
Trpv5	G	A	6: 41,637,266 (GRCm39)	R358C	probably benign	Het
Ush2a	G	A	1: 188,460,578 (GRCm39)	G2613E	probably benign	Het
Usp25	C	A	16: 76,847,446 (GRCm39)	Q185K	probably damaging	Het
Xkr5	G	A	8: 18,983,484 (GRCm39)		probably benign	Het
Zfp541	C	T	7: 15,829,683 (GRCm39)	P1331S	probably damaging	Het

Other mutations in Hepacam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01937:Hepacam2	APN	6	3,487,117 (GRCm39)	missense	probably benign	0.07
IGL01945:Hepacam2	APN	6	3,487,117 (GRCm39)	missense	probably benign	0.07
IGL02254:Hepacam2	APN	6	3,483,421 (GRCm39)	missense	probably benign	0.06
IGL02445:Hepacam2	APN	6	3,483,481 (GRCm39)	missense	probably damaging	1.00
IGL02546:Hepacam2	APN	6	3,483,568 (GRCm39)	missense	possibly damaging	0.93
IGL02620:Hepacam2	APN	6	3,487,280 (GRCm39)	splice site	probably benign
IGL02697:Hepacam2	APN	6	3,476,036 (GRCm39)	missense	possibly damaging	0.79
R0089:Hepacam2	UTSW	6	3,487,094 (GRCm39)	missense	probably damaging	0.96
R0208:Hepacam2	UTSW	6	3,467,505 (GRCm39)	splice site	probably benign
R0230:Hepacam2	UTSW	6	3,463,336 (GRCm39)	missense	probably benign	0.01
R0299:Hepacam2	UTSW	6	3,476,121 (GRCm39)	missense	probably damaging	1.00
R0499:Hepacam2	UTSW	6	3,476,121 (GRCm39)	missense	probably damaging	1.00
R0608:Hepacam2	UTSW	6	3,483,479 (GRCm39)	missense	possibly damaging	0.93
R1350:Hepacam2	UTSW	6	3,467,530 (GRCm39)	nonsense	probably null
R1663:Hepacam2	UTSW	6	3,483,439 (GRCm39)	missense	possibly damaging	0.76
R1749:Hepacam2	UTSW	6	3,483,379 (GRCm39)	missense	probably damaging	1.00
R1997:Hepacam2	UTSW	6	3,487,241 (GRCm39)	missense	probably damaging	1.00
R2146:Hepacam2	UTSW	6	3,463,378 (GRCm39)	splice site	probably benign
R3911:Hepacam2	UTSW	6	3,494,477 (GRCm39)	start codon destroyed	probably null	0.98
R4281:Hepacam2	UTSW	6	3,475,938 (GRCm39)	missense	probably damaging	0.98
R4290:Hepacam2	UTSW	6	3,487,237 (GRCm39)	missense	probably benign	0.01
R4371:Hepacam2	UTSW	6	3,486,988 (GRCm39)	missense	probably damaging	1.00
R4794:Hepacam2	UTSW	6	3,475,933 (GRCm39)	missense	probably damaging	0.96
R4890:Hepacam2	UTSW	6	3,487,231 (GRCm39)	missense	probably damaging	0.96
R5330:Hepacam2	UTSW	6	3,483,377 (GRCm39)	missense	probably benign	0.00
R5677:Hepacam2	UTSW	6	3,466,142 (GRCm39)	missense	probably damaging	1.00
R5796:Hepacam2	UTSW	6	3,466,200 (GRCm39)	splice site	probably null
R5844:Hepacam2	UTSW	6	3,476,073 (GRCm39)	missense	probably damaging	0.99
R5979:Hepacam2	UTSW	6	3,476,149 (GRCm39)	missense	probably damaging	1.00
R6017:Hepacam2	UTSW	6	3,483,332 (GRCm39)	missense	probably damaging	1.00
R7460:Hepacam2	UTSW	6	3,487,199 (GRCm39)	missense	probably benign	0.20
R8458:Hepacam2	UTSW	6	3,483,358 (GRCm39)	missense	probably damaging	1.00
R8928:Hepacam2	UTSW	6	3,467,623 (GRCm39)	critical splice donor site	probably null
R9525:Hepacam2	UTSW	6	3,476,046 (GRCm39)	missense	probably benign	0.33
R9762:Hepacam2	UTSW	6	3,486,940 (GRCm39)	missense	probably damaging	1.00
Z1177:Hepacam2	UTSW	6	3,483,352 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- AGATGCCTAAGACTGGTCCTGG -3'
(R):5'- ATGGTTCAGTTCCATCCTGC -3'

Sequencing Primer
(F):5'- CCCACAGGTTGAGAACTACTGG -3'
(R):5'- AGTTCCATCCTGCTTCTGGGG -3'

Posted On

2016-08-04