Mutagenetix > Incidental Mutation

Incidental Mutation 'R5905:Hrc'

456512

Institutional Source

Beutler Lab

Gene Symbol

Hrc

Ensembl Gene

ENSMUSG00000038239

Gene Name

histidine rich calcium binding protein

Synonyms

MMRRC Submission

044102-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5905 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44984714-44988398 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44985658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 270 (G270S)

Ref Sequence

ENSEMBL: ENSMUSP00000082459 (fasta)

Gene Model

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

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

probably damaging
Transcript: ENSMUST00000085351
AA Change: G270S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239
AA Change: G270S

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: ENSMUST00000211098

Predicted Effect

probably benign
Transcript: ENSMUST00000211431

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211411

Predicted Effect

probably benign
Transcript: ENSMUST00000211743

Predicted Effect

probably benign
Transcript: ENSMUST00000211327

Predicted Effect

probably benign
Transcript: ENSMUST00000211067

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.9%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	A	3: 36,533,718 (GRCm39)		probably null	Het
Acat1	A	T	9: 53,503,366 (GRCm39)	Y158N	probably damaging	Het
Adamtsl1	C	A	4: 86,260,561 (GRCm39)	A924E	probably damaging	Het
Alad	G	T	4: 62,428,359 (GRCm39)	T305K	probably benign	Het
Als2cl	G	T	9: 110,727,152 (GRCm39)	R906L	probably damaging	Het
Ap3d1	T	C	10: 80,558,761 (GRCm39)	N281S	possibly damaging	Het
Arf4	A	G	14: 26,375,079 (GRCm39)	T113A	probably benign	Het
Asah2	T	C	19: 31,993,914 (GRCm39)	D438G	probably damaging	Het
Cachd1	C	A	4: 100,840,753 (GRCm39)	N905K	probably damaging	Het
Catsperb	T	A	12: 101,568,959 (GRCm39)	M877K	possibly damaging	Het
Cc2d2a	A	T	5: 43,869,768 (GRCm39)	M890L	probably benign	Het
Cd180	A	T	13: 102,842,541 (GRCm39)	H529L	possibly damaging	Het
Cdh23	G	T	10: 60,370,314 (GRCm39)	D160E	probably damaging	Het
Chd7	C	A	4: 8,840,553 (GRCm39)	N1440K	possibly damaging	Het
Cntln	T	A	4: 84,889,410 (GRCm39)	S298T	probably benign	Het
Cplx3	A	G	9: 57,515,546 (GRCm39)	I443T	probably damaging	Het
Dmap1	G	T	4: 117,533,963 (GRCm39)	T132K	probably benign	Het
Dnah11	C	T	12: 117,918,659 (GRCm39)	G3424E	probably damaging	Het
Dnah5	T	A	15: 28,387,979 (GRCm39)	M3146K	probably damaging	Het
Egfr	A	T	11: 16,861,494 (GRCm39)	E1091V	probably damaging	Het
Eps8l2	T	C	7: 140,937,746 (GRCm39)	F422S	possibly damaging	Het
F2r	A	G	13: 95,741,121 (GRCm39)	V138A	possibly damaging	Het
Faf1	T	A	4: 109,748,126 (GRCm39)	M477K	probably benign	Het
Fam149b	C	T	14: 20,409,978 (GRCm39)	T235M	probably benign	Het
Fan1	C	A	7: 64,003,399 (GRCm39)	A808S	probably benign	Het
Fbxl20	A	G	11: 98,006,271 (GRCm39)	I38T	probably damaging	Het
Fnbp4	C	A	2: 90,581,478 (GRCm39)	T177K	probably benign	Het
Gm9747	T	C	1: 82,212,019 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,821,397 (GRCm39)	D354G	probably benign	Het
Grk4	A	C	5: 34,869,074 (GRCm39)	Y189S	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hgfac	A	G	5: 35,199,706 (GRCm39)	N63D	probably benign	Het
Hk1	C	A	10: 62,188,837 (GRCm39)	K25N	probably null	Het
Inhba	T	A	13: 16,191,893 (GRCm39)	W5R	probably benign	Het
Lipm	T	C	19: 34,089,311 (GRCm39)	S90P	probably benign	Het
Lmod3	T	A	6: 97,224,575 (GRCm39)	E415D	probably damaging	Het
Lrrc37	A	T	11: 103,505,081 (GRCm39)	S2296T	probably damaging	Het
Lrrc63	A	G	14: 75,323,614 (GRCm39)	S537P	possibly damaging	Het
Map9	T	A	3: 82,287,555 (GRCm39)		probably null	Het
Marf1	T	A	16: 13,945,113 (GRCm39)	Q1252L	probably damaging	Het
Mc3r	A	T	2: 172,091,129 (GRCm39)	D117V	probably damaging	Het
Mepce	A	G	5: 137,782,982 (GRCm39)	V448A	possibly damaging	Het
Mical1	A	T	10: 41,362,873 (GRCm39)	M973L	probably benign	Het
Mmp21	T	C	7: 133,280,443 (GRCm39)	T176A	probably benign	Het
Nacc2	A	G	2: 25,951,590 (GRCm39)	V415A	probably damaging	Het
Neb	G	A	2: 52,083,243 (GRCm39)	T1639I	probably damaging	Het
Nfia	A	G	4: 97,999,488 (GRCm39)	H485R	possibly damaging	Het
Nlrp9a	C	T	7: 26,257,762 (GRCm39)	T460I	probably benign	Het
Or10p21	A	T	10: 128,847,156 (GRCm39)	M1L	probably benign	Het
Or52z15	T	A	7: 103,332,781 (GRCm39)	N285K	probably damaging	Het
Or56b35	T	C	7: 104,964,158 (GRCm39)	Y316H	probably benign	Het
Or8g24	T	A	9: 38,989,379 (GRCm39)	I221F	probably damaging	Het
Or8k32	T	A	2: 86,369,113 (GRCm39)	I49F	possibly damaging	Het
Or9s13	T	A	1: 92,547,864 (GRCm39)	C79S	possibly damaging	Het
Otoa	T	A	7: 120,693,824 (GRCm39)	L68Q	probably damaging	Het
Pclo	A	T	5: 14,730,399 (GRCm39)		probably benign	Het
Pcsk2	T	A	2: 143,591,060 (GRCm39)	Y186N	probably damaging	Het
Pigz	A	G	16: 31,764,246 (GRCm39)	T435A	probably benign	Het
Pja2	T	C	17: 64,616,085 (GRCm39)	D270G	probably benign	Het
Polb	G	T	8: 23,130,011 (GRCm39)	S187*	probably null	Het
Popdc3	A	G	10: 45,194,015 (GRCm39)	D272G	probably benign	Het
Prr5	A	T	15: 84,626,178 (GRCm39)	K84N	possibly damaging	Het
Prss36	T	C	7: 127,532,744 (GRCm39)	D716G	probably benign	Het
Rapgef5	T	A	12: 117,712,161 (GRCm39)	D547E	probably damaging	Het
Slc4a11	T	A	2: 130,526,972 (GRCm39)	I719F	probably damaging	Het
Smpd2	A	G	10: 41,365,344 (GRCm39)	W51R	probably damaging	Het
Snrpb	T	A	2: 130,021,196 (GRCm39)		probably benign	Het
Sox9	A	G	11: 112,674,646 (GRCm39)	E148G	probably damaging	Het
Strbp	G	A	2: 37,515,267 (GRCm39)	T253I	probably damaging	Het
Sult1d1	A	T	5: 87,707,685 (GRCm39)	M145K	probably damaging	Het
Syt17	T	C	7: 118,036,141 (GRCm39)	D74G	probably benign	Het
Taf5l	A	C	8: 124,729,714 (GRCm39)		probably null	Het
Tas2r131	T	G	6: 132,934,639 (GRCm39)	I57L	probably benign	Het
Tcf25	A	G	8: 124,108,176 (GRCm39)	N77S	possibly damaging	Het
Tmem253	A	G	14: 52,255,268 (GRCm39)	T57A	possibly damaging	Het
Trrap	A	G	5: 144,786,730 (GRCm39)	K3170R	possibly damaging	Het
Tspan17	A	G	13: 54,941,111 (GRCm39)	N130S	probably damaging	Het
Vmn1r216	C	T	13: 23,283,367 (GRCm39)	L17F	probably damaging	Het
Vmn2r3	T	A	3: 64,182,698 (GRCm39)	T334S	probably benign	Het
Wnk2	G	T	13: 49,229,821 (GRCm39)	A901E	probably damaging	Het
Zc3hav1	T	C	6: 38,284,275 (GRCm39)	T947A	probably benign	Het
Zfhx3	C	T	8: 109,520,135 (GRCm39)	P419L	probably damaging	Het
Zfp292	A	G	4: 34,819,549 (GRCm39)	S258P	probably damaging	Het
Zfp354c	T	C	11: 50,706,253 (GRCm39)	Y274C	probably damaging	Het
Zfp652	G	A	11: 95,640,689 (GRCm39)	A205T	probably benign	Het
Zfp964	A	G	8: 70,116,563 (GRCm39)	T388A	unknown	Het

Other mutations in Hrc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03379:Hrc	APN	7	44,986,679 (GRCm39)	missense	probably benign	0.27
BB004:Hrc	UTSW	7	44,985,477 (GRCm39)	missense	possibly damaging	0.53
BB014:Hrc	UTSW	7	44,985,477 (GRCm39)	missense	possibly damaging	0.53
R0017:Hrc	UTSW	7	44,985,794 (GRCm39)	missense	possibly damaging	0.71
R0047:Hrc	UTSW	7	44,986,113 (GRCm39)	missense	probably benign	0.00
R0047:Hrc	UTSW	7	44,986,113 (GRCm39)	missense	probably benign	0.00
R0310:Hrc	UTSW	7	44,985,921 (GRCm39)	missense	probably benign
R0436:Hrc	UTSW	7	44,985,557 (GRCm39)	missense	possibly damaging	0.53
R0534:Hrc	UTSW	7	44,986,659 (GRCm39)	unclassified	probably benign
R1230:Hrc	UTSW	7	44,985,887 (GRCm39)	missense	possibly damaging	0.85
R1808:Hrc	UTSW	7	44,986,202 (GRCm39)	missense	probably damaging	0.99
R1975:Hrc	UTSW	7	44,985,638 (GRCm39)	missense	probably damaging	0.98
R1977:Hrc	UTSW	7	44,985,638 (GRCm39)	missense	probably damaging	0.98
R2258:Hrc	UTSW	7	44,986,105 (GRCm39)	missense	possibly damaging	0.68
R2260:Hrc	UTSW	7	44,986,105 (GRCm39)	missense	possibly damaging	0.68
R3551:Hrc	UTSW	7	44,985,757 (GRCm39)	missense	possibly damaging	0.72
R3552:Hrc	UTSW	7	44,985,757 (GRCm39)	missense	possibly damaging	0.72
R4169:Hrc	UTSW	7	44,986,181 (GRCm39)	missense	probably benign	0.00
R5085:Hrc	UTSW	7	44,986,445 (GRCm39)	missense	probably damaging	0.99
R5204:Hrc	UTSW	7	44,985,128 (GRCm39)	missense	possibly damaging	0.96
R5215:Hrc	UTSW	7	44,985,515 (GRCm39)	missense	probably damaging	0.99
R5245:Hrc	UTSW	7	44,984,855 (GRCm39)	missense	probably damaging	1.00
R5390:Hrc	UTSW	7	44,984,909 (GRCm39)	missense	probably damaging	0.96
R5432:Hrc	UTSW	7	44,986,285 (GRCm39)	missense	possibly damaging	0.72
R5756:Hrc	UTSW	7	44,986,130 (GRCm39)	missense	possibly damaging	0.85
R5761:Hrc	UTSW	7	44,986,025 (GRCm39)	splice site	probably null
R6144:Hrc	UTSW	7	44,986,157 (GRCm39)	missense	possibly damaging	0.86
R6684:Hrc	UTSW	7	44,985,956 (GRCm39)	missense	possibly damaging	0.53
R6699:Hrc	UTSW	7	44,985,119 (GRCm39)	missense	possibly damaging	0.85
R6809:Hrc	UTSW	7	44,985,803 (GRCm39)	missense	probably benign
R6887:Hrc	UTSW	7	44,985,088 (GRCm39)	missense	probably benign	0.18
R7178:Hrc	UTSW	7	44,985,685 (GRCm39)	missense	possibly damaging	0.53
R7208:Hrc	UTSW	7	44,985,989 (GRCm39)	missense	possibly damaging	0.53
R7258:Hrc	UTSW	7	44,985,720 (GRCm39)	missense	possibly damaging	0.70
R7310:Hrc	UTSW	7	44,985,227 (GRCm39)	nonsense	probably null
R7456:Hrc	UTSW	7	44,986,320 (GRCm39)	missense	possibly damaging	0.83
R7525:Hrc	UTSW	7	44,985,803 (GRCm39)	missense	probably benign
R7673:Hrc	UTSW	7	44,986,658 (GRCm39)	missense	probably benign	0.00
R7734:Hrc	UTSW	7	44,986,100 (GRCm39)	missense	probably benign	0.06
R7927:Hrc	UTSW	7	44,985,477 (GRCm39)	missense	possibly damaging	0.53
R7952:Hrc	UTSW	7	44,985,692 (GRCm39)	missense	probably damaging	0.98
R8080:Hrc	UTSW	7	44,986,262 (GRCm39)	missense	probably damaging	0.96
R8823:Hrc	UTSW	7	44,985,722 (GRCm39)	missense	possibly damaging	0.85
R9173:Hrc	UTSW	7	44,986,799 (GRCm39)	critical splice donor site	probably null
R9358:Hrc	UTSW	7	44,985,984 (GRCm39)	missense	probably benign	0.33
Z1177:Hrc	UTSW	7	44,986,394 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- TGAGTATCACCGTCACGTCC -3'
(R):5'- TGCCTGGAGACATGATGATCATC -3'

Sequencing Primer
(F):5'- TGATAATGAACACCAGGTCCATGGTC -3'
(R):5'- CTGGAGACATGATGATCATCTTCATC -3'

Posted On

2017-02-15