Mutagenetix > Incidental Mutation

Incidental Mutation 'R3551:Hrc'

268341

Institutional Source

Beutler Lab

Gene Symbol

Hrc

Ensembl Gene

ENSMUSG00000038239

Gene Name

histidine rich calcium binding protein

Synonyms

MMRRC Submission

040668-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3551 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45335290-45338974 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 45336333 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glutamine at position 303 (E303Q)

Ref Sequence

ENSEMBL: ENSMUSP00000082459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003961] [ENSMUST00000042194] [ENSMUST00000085351] [ENSMUST00000210248] [ENSMUST00000210541] [ENSMUST00000211067] [ENSMUST00000211327] [ENSMUST00000211431] [ENSMUST00000211743]

AlphaFold

G5E8J6

Predicted Effect

probably benign
Transcript: ENSMUST00000003961

SMART Domains

Protein: ENSMUSP00000003961
Gene: ENSMUSG00000003863

Domain	Start	End	E-Value	Type
coiled coil region	27	129	N/A	INTRINSIC
coiled coil region	167	426	N/A	INTRINSIC
coiled coil region	448	500	N/A	INTRINSIC
low complexity region	534	550	N/A	INTRINSIC
coiled coil region	597	642	N/A	INTRINSIC
low complexity region	651	672	N/A	INTRINSIC
low complexity region	707	719	N/A	INTRINSIC
SAM	835	904	1.46e-10	SMART
SAM	950	1017	8.22e-5	SMART
SAM	1038	1110	3.58e-5	SMART
low complexity region	1156	1169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000042194

SMART Domains

Protein: ENSMUSP00000040367
Gene: ENSMUSG00000038260

Domain	Start	End	E-Value	Type
low complexity region	118	131	N/A	INTRINSIC
SCOP:d1awcb_	378	465	2e-3	SMART
low complexity region	600	612	N/A	INTRINSIC
low complexity region	637	645	N/A	INTRINSIC
transmembrane domain	688	710	N/A	INTRINSIC
Pfam:Ion_trans	781	1051	1.8e-13	PFAM
low complexity region	1089	1096	N/A	INTRINSIC
low complexity region	1191	1208	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085351
AA Change: E303Q

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239
AA Change: E303Q

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	32	45	N/A	INTRINSIC
internal_repeat_1	51	146	8.76e-11	PROSPERO
low complexity region	154	189	N/A	INTRINSIC
Pfam:Hist_rich_Ca-bd	213	225	1e-4	PFAM
low complexity region	240	254	N/A	INTRINSIC
low complexity region	260	274	N/A	INTRINSIC
low complexity region	287	304	N/A	INTRINSIC
Pfam:Hist_rich_Ca-bd	308	324	2.2e-8	PFAM
low complexity region	340	353	N/A	INTRINSIC
low complexity region	362	382	N/A	INTRINSIC
internal_repeat_1	399	490	8.76e-11	PROSPERO
coiled coil region	536	565	N/A	INTRINSIC
low complexity region	571	582	N/A	INTRINSIC
coiled coil region	594	621	N/A	INTRINSIC
low complexity region	632	648	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210479

Predicted Effect

probably benign
Transcript: ENSMUST00000210541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210586

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210844

Predicted Effect

probably benign
Transcript: ENSMUST00000211067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211098

Predicted Effect

probably benign
Transcript: ENSMUST00000211327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211411

Predicted Effect

probably benign
Transcript: ENSMUST00000211431

Predicted Effect

probably benign
Transcript: ENSMUST00000211743

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in impaired weight gain and weight loss around 1 year of age and increased susceptibility to induced cardiac hypertrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Adam24	G	C	8: 40,679,593	W33C	probably benign	Het
Adgrl2	A	T	3: 148,858,963	V327E	probably damaging	Het
Aqp7	T	A	4: 41,045,329	N17I	probably benign	Het
Bicra	T	A	7: 15,979,733	Q848L	probably benign	Het
C4b	T	C	17: 34,741,872	E240G	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Clca3a2	T	A	3: 144,803,081	N50I	probably damaging	Het
Dcaf7	A	G	11: 106,054,796	T324A	probably benign	Het
Dnah12	G	A	14: 26,770,972	R1230H	probably benign	Het
Dsg4	G	A	18: 20,451,756	V176M	probably damaging	Het
Ect2l	A	G	10: 18,163,393	I339T	probably damaging	Het
Edc4	A	T	8: 105,885,494	I138F	probably damaging	Het
Ercc6l2	T	A	13: 63,844,595	V401E	probably damaging	Het
Gm3269	T	A	14: 4,845,893	V260D	possibly damaging	Het
Gm4076	C	T	13: 85,127,150		noncoding transcript	Het
Gm4922	A	T	10: 18,784,496	N159K	probably benign	Het
Gm5134	G	T	10: 76,000,447	A421S	probably benign	Het
Gm5724	T	C	6: 141,708,596	K647E	probably benign	Het
Ipo4	A	G	14: 55,633,103	V288A	probably benign	Het
Kng2	A	G	16: 23,011,995		probably null	Het
Lrfn1	T	C	7: 28,460,054	L466P	possibly damaging	Het
Magi1	T	A	6: 93,699,629	K916N	probably damaging	Het
Mms19	T	C	19: 41,949,798	T720A	probably benign	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Npas2	A	T	1: 39,287,562	M43L	probably benign	Het
Nup43	A	G	10: 7,675,014	D216G	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Pear1	A	G	3: 87,758,132	F145L	probably benign	Het
Pgap1	A	G	1: 54,530,143	S355P	possibly damaging	Het
Prr14l	A	T	5: 32,828,619		probably null	Het
Ptpn12	T	C	5: 20,989,049	K742E	possibly damaging	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Sema4c	G	C	1: 36,553,723	T138S	probably benign	Het
Slc4a2	C	T	5: 24,430,101	T168M	probably benign	Het
Spice1	G	T	16: 44,357,869	S85I	probably damaging	Het
Thrb	T	A	14: 17,963,214	I59N	probably damaging	Het
Trav7-1	A	G	14: 52,655,299	D103G	probably damaging	Het
Ubap2l	G	T	3: 90,015,451	T766N	unknown	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp704	A	G	3: 9,474,525	V255A	probably damaging	Het
Zfp759	T	C	13: 67,138,967	V194A	probably benign	Het

Other mutations in Hrc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03379:Hrc	APN	7	45337255	missense	probably benign	0.27
BB004:Hrc	UTSW	7	45336053	missense	possibly damaging	0.53
BB014:Hrc	UTSW	7	45336053	missense	possibly damaging	0.53
R0017:Hrc	UTSW	7	45336370	missense	possibly damaging	0.71
R0047:Hrc	UTSW	7	45336689	missense	probably benign	0.00
R0047:Hrc	UTSW	7	45336689	missense	probably benign	0.00
R0310:Hrc	UTSW	7	45336497	missense	probably benign
R0436:Hrc	UTSW	7	45336133	missense	possibly damaging	0.53
R0534:Hrc	UTSW	7	45337235	unclassified	probably benign
R1230:Hrc	UTSW	7	45336463	missense	possibly damaging	0.85
R1808:Hrc	UTSW	7	45336778	missense	probably damaging	0.99
R1975:Hrc	UTSW	7	45336214	missense	probably damaging	0.98
R1977:Hrc	UTSW	7	45336214	missense	probably damaging	0.98
R2258:Hrc	UTSW	7	45336681	missense	possibly damaging	0.68
R2260:Hrc	UTSW	7	45336681	missense	possibly damaging	0.68
R3552:Hrc	UTSW	7	45336333	missense	possibly damaging	0.72
R4169:Hrc	UTSW	7	45336757	missense	probably benign	0.00
R5085:Hrc	UTSW	7	45337021	missense	probably damaging	0.99
R5204:Hrc	UTSW	7	45335704	missense	possibly damaging	0.96
R5215:Hrc	UTSW	7	45336091	missense	probably damaging	0.99
R5245:Hrc	UTSW	7	45335431	missense	probably damaging	1.00
R5390:Hrc	UTSW	7	45335485	missense	probably damaging	0.96
R5432:Hrc	UTSW	7	45336861	missense	possibly damaging	0.72
R5756:Hrc	UTSW	7	45336706	missense	possibly damaging	0.85
R5761:Hrc	UTSW	7	45336601	splice site	probably null
R5905:Hrc	UTSW	7	45336234	missense	probably damaging	0.99
R6144:Hrc	UTSW	7	45336733	missense	possibly damaging	0.86
R6684:Hrc	UTSW	7	45336532	missense	possibly damaging	0.53
R6699:Hrc	UTSW	7	45335695	missense	possibly damaging	0.85
R6809:Hrc	UTSW	7	45336379	missense	probably benign
R6887:Hrc	UTSW	7	45335664	missense	probably benign	0.18
R7178:Hrc	UTSW	7	45336261	missense	possibly damaging	0.53
R7208:Hrc	UTSW	7	45336565	missense	possibly damaging	0.53
R7258:Hrc	UTSW	7	45336296	missense	possibly damaging	0.70
R7310:Hrc	UTSW	7	45335803	nonsense	probably null
R7456:Hrc	UTSW	7	45336896	missense	possibly damaging	0.83
R7525:Hrc	UTSW	7	45336379	missense	probably benign
R7673:Hrc	UTSW	7	45337234	missense	probably benign	0.00
R7734:Hrc	UTSW	7	45336676	missense	probably benign	0.06
R7927:Hrc	UTSW	7	45336053	missense	possibly damaging	0.53
R7952:Hrc	UTSW	7	45336268	missense	probably damaging	0.98
R8080:Hrc	UTSW	7	45336838	missense	probably damaging	0.96
R8823:Hrc	UTSW	7	45336298	missense	possibly damaging	0.85
R9173:Hrc	UTSW	7	45337375	critical splice donor site	probably null
R9358:Hrc	UTSW	7	45336560	missense	probably benign	0.33
Z1177:Hrc	UTSW	7	45336970	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- TCTCTACTGAGCATGGACACC -3'
(R):5'- TGATGCACATGCTCAGTAGAG -3'

Sequencing Primer
(F):5'- AGCTCACAGATATCAGGATCATG -3'
(R):5'- GATGCACATGCTCAGTAGAGTCATC -3'

Posted On

2015-02-19