Mutagenetix > Incidental Mutation

Incidental Mutation 'R0499:Hepacam2'

47011

Institutional Source

Beutler Lab

Gene Symbol

Hepacam2

Ensembl Gene

ENSMUSG00000044156

Gene Name

HEPACAM family member 2

Synonyms

MMRRC Submission

038695-MU

Accession Numbers

Essential gene?

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

Stock #

R0499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3457202-3498319 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3476121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 268 (L268P)

Ref Sequence

ENSEMBL: ENSMUSP00000058882 (fasta)

Gene Model

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

AlphaFold

Q4VAH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000049985
AA Change: L268P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058882
Gene: ENSMUSG00000044156
AA Change: L268P

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: ENSMUST00000184466
AA Change: L255P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201276

Predicted Effect

probably damaging
Transcript: ENSMUST00000201607
AA Change: L192P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143834
Gene: ENSMUSG00000044156
AA Change: L192P

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

0.4016

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

99% (97/98)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,139,564 (GRCm39)	V388A	probably damaging	Het
Acp3	T	C	9: 104,197,201 (GRCm39)	E146G	probably damaging	Het
Adap2	A	T	11: 80,066,905 (GRCm39)	R276S	probably damaging	Het
Agbl3	A	T	6: 34,816,270 (GRCm39)	M727L	probably benign	Het
Ahnak	T	A	19: 8,977,628 (GRCm39)		probably benign	Het
Ankmy1	G	T	1: 92,813,948 (GRCm39)	D410E	probably damaging	Het
Ankra2	T	C	13: 98,402,962 (GRCm39)	S70P	probably damaging	Het
Aox4	T	C	1: 58,302,556 (GRCm39)		probably null	Het
Arl13b	G	A	16: 62,622,096 (GRCm39)	T399I	probably benign	Het
Atad2	A	T	15: 57,966,636 (GRCm39)	D652E	possibly damaging	Het
Atad2	T	G	15: 57,984,345 (GRCm39)	M328L	probably benign	Het
Ccnb1	T	C	13: 100,916,642 (GRCm39)		probably null	Het
Ccr2	G	C	9: 123,905,976 (GRCm39)	K85N	possibly damaging	Het
Ccr2	A	T	9: 123,906,163 (GRCm39)	T148S	possibly damaging	Het
Cdc20b	T	C	13: 113,192,484 (GRCm39)	V59A	probably benign	Het
Cdin1	C	T	2: 115,473,172 (GRCm39)	R101W	probably damaging	Het
Cdkl3	T	C	11: 51,923,243 (GRCm39)	S507P	possibly damaging	Het
Celf6	C	A	9: 59,510,161 (GRCm39)	T86K	probably benign	Het
Ces1g	A	G	8: 94,060,317 (GRCm39)	F101L	probably benign	Het
Cimap1d	T	C	10: 79,476,099 (GRCm39)	D155G	probably damaging	Het
Cntnap3	C	T	13: 65,006,492 (GRCm39)	D107N	probably benign	Het
Col15a1	A	T	4: 47,262,950 (GRCm39)	D534V	probably damaging	Het
Col27a1	A	G	4: 63,218,978 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Cstf3	A	G	2: 104,479,950 (GRCm39)	I272M	possibly damaging	Het
Cyp2d40	T	C	15: 82,645,418 (GRCm39)	T150A	probably benign	Het
Dnah8	T	A	17: 30,934,483 (GRCm39)	F1489L	possibly damaging	Het
Dop1b	A	T	16: 93,567,325 (GRCm39)	T1251S	probably benign	Het
Dtx2	G	A	5: 136,057,957 (GRCm39)	G421R	probably damaging	Het
Epb41l3	T	A	17: 69,554,654 (GRCm39)	D251E	probably benign	Het
Erg	A	C	16: 95,161,842 (GRCm39)	Y305*	probably null	Het
Exosc4	G	A	15: 76,213,766 (GRCm39)	A197T	probably benign	Het
Fam227b	T	A	2: 125,942,829 (GRCm39)	I323L	probably benign	Het
Far1	G	T	7: 113,153,503 (GRCm39)		probably benign	Het
Fmod	A	G	1: 133,968,934 (GRCm39)	I325V	possibly damaging	Het
Fshr	C	G	17: 89,316,713 (GRCm39)	S169T	probably benign	Het
Gm4076	G	T	13: 85,275,345 (GRCm39)		noncoding transcript	Het
Gm5134	A	T	10: 75,828,359 (GRCm39)	Y313F	probably benign	Het
H2-Q6	T	A	17: 35,644,179 (GRCm39)	F54I	probably damaging	Het
Hcrtr2	C	A	9: 76,161,954 (GRCm39)	L145F	probably damaging	Het
Herc2	C	A	7: 55,834,117 (GRCm39)	C3107*	probably null	Het
Herc4	T	C	10: 63,099,811 (GRCm39)	V78A	probably damaging	Het
Hyal5	T	C	6: 24,877,920 (GRCm39)	W339R	probably damaging	Het
Igfbp6	T	A	15: 102,056,419 (GRCm39)		probably null	Het
Il18rap	A	T	1: 40,564,218 (GRCm39)	H112L	probably benign	Het
Il1r2	T	A	1: 40,162,309 (GRCm39)	Y317*	probably null	Het
Ints8	C	A	4: 11,246,097 (GRCm39)	V190L	probably benign	Het
Ipo11	T	C	13: 107,061,595 (GRCm39)	T22A	probably benign	Het
Itgb4	C	A	11: 115,870,521 (GRCm39)	R117S	probably benign	Het
Lcorl	C	G	5: 45,891,711 (GRCm39)	G214A	probably benign	Het
Lgals3bp	T	A	11: 118,289,019 (GRCm39)		probably null	Het
Lyst	T	A	13: 13,791,298 (GRCm39)	L54I	probably damaging	Het
Mcm9	T	C	10: 53,414,250 (GRCm39)	T1015A	probably benign	Het
Mef2d	T	A	3: 88,063,825 (GRCm39)	I84N	probably damaging	Het
Mmrn2	A	G	14: 34,119,913 (GRCm39)	N261S	probably damaging	Het
Mpdz	T	C	4: 81,210,768 (GRCm39)	T1693A	probably benign	Het
Mss51	T	A	14: 20,534,756 (GRCm39)	Q338L	possibly damaging	Het
Mstn	T	A	1: 53,103,143 (GRCm39)	Y160N	probably damaging	Het
Muc6	T	C	7: 141,226,735 (GRCm39)	T1431A	probably benign	Het
Nek9	A	T	12: 85,348,657 (GRCm39)	M959K	probably benign	Het
Or2ak6	G	A	11: 58,593,069 (GRCm39)	V181I	probably benign	Het
Or4f58	A	T	2: 111,851,777 (GRCm39)	C141S	probably damaging	Het
Or8b47	A	T	9: 38,435,801 (GRCm39)	M258L	probably benign	Het
Otog	G	T	7: 45,923,256 (GRCm39)	G1044W	probably damaging	Het
Pcdh9	G	A	14: 94,123,671 (GRCm39)	T833M	probably damaging	Het
Pdcd10	T	C	3: 75,434,958 (GRCm39)	K111R	probably damaging	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Plekhg1	T	C	10: 3,887,971 (GRCm39)	V355A	probably damaging	Het
Podn	G	T	4: 107,878,791 (GRCm39)	L359I	probably damaging	Het
Psd	T	C	19: 46,310,600 (GRCm39)	E483G	probably damaging	Het
Ptch2	T	A	4: 116,968,340 (GRCm39)	L905*	probably null	Het
Rxfp2	T	A	5: 149,989,880 (GRCm39)	N420K	probably damaging	Het
Scpppq1	C	A	5: 104,222,747 (GRCm39)	G24*	probably null	Het
Sde2	T	A	1: 180,689,992 (GRCm39)	D237E	probably benign	Het
Serpina1d	A	T	12: 103,732,016 (GRCm39)	L281Q	probably damaging	Het
Serpina9	T	C	12: 103,967,729 (GRCm39)	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,459,612 (GRCm39)	K57E	probably damaging	Het
Shc3	C	T	13: 51,634,264 (GRCm39)		probably benign	Het
Sik3	T	C	9: 46,120,038 (GRCm39)	M659T	possibly damaging	Het
Slc23a2	A	G	2: 131,913,937 (GRCm39)	L280P	probably damaging	Het
Smchd1	G	T	17: 71,694,083 (GRCm39)	Q1221K	probably benign	Het
Spmip2	T	A	3: 79,313,093 (GRCm39)	W56R	probably damaging	Het
Spocd1	A	G	4: 129,849,263 (GRCm39)	N694S	possibly damaging	Het
Styxl2	C	A	1: 165,926,670 (GRCm39)	V981L	probably benign	Het
Tecta	T	C	9: 42,263,359 (GRCm39)	D1409G	probably damaging	Het
Tmem131	A	T	1: 36,880,754 (GRCm39)	V172D	probably damaging	Het
Trpm3	T	C	19: 22,964,237 (GRCm39)	M1244T	possibly damaging	Het
Ugcg	G	C	4: 59,217,036 (GRCm39)	V187L	possibly damaging	Het
Usp17le	T	C	7: 104,417,708 (GRCm39)	N478S	probably benign	Het
Usp36	A	G	11: 118,164,397 (GRCm39)	V205A	probably damaging	Het
Vmn1r25	T	A	6: 57,955,494 (GRCm39)	Q265L	probably damaging	Het
Vwf	A	T	6: 125,615,077 (GRCm39)	H1176L	probably benign	Het
Zfyve28	C	T	5: 34,389,550 (GRCm39)	D217N	possibly damaging	Het
Zranb3	A	C	1: 127,882,817 (GRCm39)		probably null	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
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
R5331: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'- TGTAAGCACAGCACACATAGTCAGC -3'
(R):5'- AGCTTAGCCCCACACTGAGGATAC -3'

Sequencing Primer
(F):5'- AGCTGTCTTCTGGGCCAC -3'
(R):5'- GGATACAGTGCCTGTAAATCTGC -3'

Posted On

2013-06-12