Mutagenetix > Incidental Mutation

Incidental Mutation 'R6699:Hrc'

528683

Institutional Source

Beutler Lab

Gene Symbol

Hrc

Ensembl Gene

ENSMUSG00000038239

Gene Name

histidine rich calcium binding protein

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6699 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45335290-45338974 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45335695 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 90 (D90G)

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: D90G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239
AA Change: D90G

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

100% (35/35)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,144,368	T894A	probably damaging	Het
Adam39	A	G	8: 40,826,657	K695R	probably benign	Het
Agfg1	G	A	1: 82,858,454		probably null	Het
Ankrd44	G	A	1: 54,762,445	T241I	probably damaging	Het
Car15	T	C	16: 17,836,574	D166G	probably null	Het
Cpne2	G	A	8: 94,563,959	V391M	probably damaging	Het
Ddx27	C	T	2: 167,020,503	T155I	possibly damaging	Het
F830045P16Rik	T	C	2: 129,460,421	D417G	probably damaging	Het
Fam217b	T	G	2: 178,420,417	M58R	probably benign	Het
Ftmt	T	C	18: 52,331,665	S18P	possibly damaging	Het
Gm16494	C	T	17: 47,016,908	V17M	probably damaging	Het
Gm36864	A	T	7: 44,238,772	I342F	possibly damaging	Het
Grid2	C	G	6: 63,931,047	R224G	possibly damaging	Het
Hist1h4k	A	T	13: 21,750,504	M1K	probably null	Het
Hmgcr	T	C	13: 96,660,209	E191G	probably damaging	Het
Kbtbd7	A	G	14: 79,428,192	E488G	probably benign	Het
Krtap26-1	T	C	16: 88,647,715	N6S	unknown	Het
Mgat2	A	G	12: 69,184,781	D43G	probably damaging	Het
Mrps30	A	T	13: 118,380,598	S362T	probably damaging	Het
Olfr1124	A	T	2: 87,434,816	I110F	probably benign	Het
Olfr224	T	A	11: 58,567,205	I47L	possibly damaging	Het
Pcdhb11	T	A	18: 37,422,937	V440E	probably damaging	Het
Pcdhb18	T	A	18: 37,491,952	H778Q	probably benign	Het
Plekha7	T	C	7: 116,135,175	E1025G	probably damaging	Het
Rnf39	T	C	17: 36,947,229	W96R	probably damaging	Het
Rph3al	A	T	11: 75,900,837		probably benign	Het
Rrm1	T	A	7: 102,460,825	Y556N	probably damaging	Het
Saal1	A	T	7: 46,692,817	C401S	probably damaging	Het
Sec14l3	T	C	11: 4,075,193	S268P	possibly damaging	Het
Tmem54	A	G	4: 129,111,325	I199M	probably benign	Het
Tomm70a	A	G	16: 57,142,802	M395V	probably benign	Het
Topors	A	G	4: 40,262,300	V328A	probably damaging	Het
Vmn2r61	T	G	7: 42,300,156	S667A	probably benign	Het
Vmn2r68	G	A	7: 85,232,375	A499V	possibly damaging	Het
Zcchc14	A	T	8: 121,608,616		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
R3551:Hrc	UTSW	7	45336333	missense	possibly damaging	0.72
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
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'- TTGTCTCCTTTGGGCCACAG -3'
(R):5'- GAGACAATGCCATCCTCATCTTC -3'

Sequencing Primer
(F):5'- CAGTGGTGACCCAGGAGTTG -3'
(R):5'- ATCCTCATCTTCGTGGCTGTGG -3'

Posted On

2018-07-24