Mutagenetix > Incidental Mutation

Incidental Mutation 'R7460:Hepacam2'

578381

Institutional Source

Beutler Lab

Gene Symbol

Hepacam2

Ensembl Gene

ENSMUSG00000044156

Gene Name

HEPACAM family member 2

Synonyms

MMRRC Submission

045534-MU

Accession Numbers

Essential gene?

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

Stock #

R7460 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3457202-3498319 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3487199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 53 (P53S)

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: P53S

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000058882
Gene: ENSMUSG00000044156
AA Change: P53S

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

probably benign
Transcript: ENSMUST00000200854

SMART Domains

Protein: ENSMUSP00000144362
Gene: ENSMUSG00000044156

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201607

SMART Domains

Protein: ENSMUSP00000143834
Gene: ENSMUSG00000044156

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

0.2207

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	T	A	1: 60,473,466 (GRCm39)	V61D	probably damaging	Het
Agrn	C	A	4: 156,258,881 (GRCm39)	V915L	probably damaging	Het
Arhgap24	T	C	5: 103,040,212 (GRCm39)	V476A	probably benign	Het
Arhgef15	A	G	11: 68,837,861 (GRCm39)	L720P	probably damaging	Het
Atad2b	C	A	12: 5,002,660 (GRCm39)	R343S	probably benign	Het
Atxn3	T	A	12: 101,892,776 (GRCm39)	T313S	probably benign	Het
BC051665	T	C	13: 60,932,457 (GRCm39)	E76G	probably benign	Het
Birc2	A	T	9: 7,818,762 (GRCm39)	F610I	probably damaging	Het
Cdh16	A	T	8: 105,348,923 (GRCm39)	V58D	possibly damaging	Het
Cenpf	T	C	1: 189,386,247 (GRCm39)	D2011G	probably damaging	Het
Ddb1	T	C	19: 10,585,275 (GRCm39)		probably null	Het
Ddx1	A	G	12: 13,281,440 (GRCm39)		probably null	Het
Disp2	A	G	2: 118,620,261 (GRCm39)	H331R	probably damaging	Het
Dmxl1	A	G	18: 50,011,679 (GRCm39)	T1279A	probably benign	Het
Dync1i2	T	C	2: 71,081,230 (GRCm39)	I473T	probably damaging	Het
Fam114a1	T	G	5: 65,196,050 (GRCm39)	V520G	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat2	T	A	11: 55,169,789 (GRCm39)	D2990V	probably damaging	Het
Fbh1	C	T	2: 11,761,496 (GRCm39)	G597D	probably benign	Het
Fdxr	A	C	11: 115,167,680 (GRCm39)	S12A	probably benign	Het
Fgf14	T	A	14: 124,914,105 (GRCm39)	R9W	possibly damaging	Het
Gnat3	A	T	5: 18,204,656 (GRCm39)	D103V		Het
Inhca	T	C	9: 103,131,847 (GRCm39)	N625D	probably benign	Het
Jmjd1c	A	G	10: 67,052,815 (GRCm39)	T21A	probably benign	Het
Lama1	T	C	17: 68,074,013 (GRCm39)	C930R		Het
Lrp1b	T	C	2: 40,488,478 (GRCm39)	T4536A		Het
Lrrc27	T	A	7: 138,803,574 (GRCm39)	V166E	probably damaging	Het
Mapk10	C	T	5: 103,186,443 (GRCm39)	V90I	probably benign	Het
Mfsd14b	C	T	13: 65,219,837 (GRCm39)	G339D	probably damaging	Het
Mnt	T	A	11: 74,734,109 (GRCm39)	M580K	unknown	Het
Mrc1	T	C	2: 14,253,680 (GRCm39)	S234P	probably damaging	Het
Mrps5	G	A	2: 127,433,811 (GRCm39)	V75I	not run	Het
Mrtfb	G	T	16: 13,218,840 (GRCm39)	Q495H	probably benign	Het
Myo10	A	G	15: 25,807,913 (GRCm39)	D1845G	probably damaging	Het
Or3a1c	A	T	11: 74,046,672 (GRCm39)	I231F	probably damaging	Het
Or51a25	A	T	7: 102,373,028 (GRCm39)	M223K	probably benign	Het
Or7a40	C	A	16: 16,491,030 (GRCm39)	A272S	possibly damaging	Het
Or8b3	T	C	9: 38,314,649 (GRCm39)	S160P	possibly damaging	Het
Pdhx	G	A	2: 102,877,124 (GRCm39)	T95M	probably damaging	Het
Pigb	C	T	9: 72,945,957 (GRCm39)	V72I	probably damaging	Het
Prr7	C	A	13: 55,620,166 (GRCm39)	P110Q	unknown	Het
Psg22	A	G	7: 18,458,329 (GRCm39)	D340G	probably benign	Het
Ptprn2	T	C	12: 117,212,301 (GRCm39)	S908P	probably benign	Het
Ros1	T	C	10: 51,994,299 (GRCm39)	Y1348C	probably damaging	Het
Rspry1	T	C	8: 95,376,963 (GRCm39)	I506T	probably benign	Het
Ryr2	T	A	13: 11,720,596 (GRCm39)	Y2684F	probably benign	Het
Sdr16c6	A	G	4: 4,076,575 (GRCm39)		probably null	Het
Senp7	A	G	16: 55,993,545 (GRCm39)	T743A	possibly damaging	Het
Slc6a20b	T	C	9: 123,434,014 (GRCm39)	I275V	probably benign	Het
Slc6a7	A	G	18: 61,134,674 (GRCm39)	I467T	probably benign	Het
Tacc2	A	G	7: 130,226,363 (GRCm39)	D1016G	probably benign	Het
Thsd7a	A	G	6: 12,554,933 (GRCm39)	V317A		Het
Tle3	A	G	9: 61,320,366 (GRCm39)	H598R	probably damaging	Het
Tmem102	A	G	11: 69,694,949 (GRCm39)	L341P	probably damaging	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Trappc14	G	A	5: 138,260,991 (GRCm39)	T218M	probably benign	Het
Trhde	T	A	10: 114,249,168 (GRCm39)	D866V	probably damaging	Het
Ttn	A	G	2: 76,581,617 (GRCm39)	I23092T	probably damaging	Het
U2surp	C	A	9: 95,344,877 (GRCm39)	V944L	unknown	Het
Urgcp	T	C	11: 5,666,622 (GRCm39)	H615R	possibly damaging	Het
Vps45	T	A	3: 95,955,699 (GRCm39)	Y97F	probably benign	Het
Zc3h12c	T	C	9: 52,055,402 (GRCm39)	T136A	probably benign	Het
Zfp948	A	T	17: 21,808,677 (GRCm39)	H623L	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
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
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'- CATTCCCCTGGATGTTGACC -3'
(R):5'- GGGACTACCATCTGACTGAGTTC -3'

Sequencing Primer
(F):5'- GATGTAATTGCCCTCATCGGTGAAC -3'
(R):5'- GAGTTCTCTCTGCAACCGAAC -3'

Posted On

2019-10-07