Mutagenetix > Incidental Mutation

Incidental Mutation 'R6887:Hrc'

536994

Institutional Source

Beutler Lab

Gene Symbol

Hrc

Ensembl Gene

ENSMUSG00000038239

Gene Name

histidine rich calcium binding protein

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45335290-45338974 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45335664 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 80 (F80L)

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

probably benign
Transcript: ENSMUST00000085351
AA Change: F80L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239
AA Change: F80L

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

probably benign
Transcript: ENSMUST00000210541

Predicted Effect

probably benign
Transcript: ENSMUST00000211067

Predicted Effect

probably benign
Transcript: ENSMUST00000211327

Predicted Effect

probably benign
Transcript: ENSMUST00000211431

Predicted Effect

probably benign
Transcript: ENSMUST00000211743

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (39/39)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	A	7: 79,092,483	V543I	probably damaging	Het
Adcy5	A	G	16: 35,298,590	I1104V	possibly damaging	Het
Adgrl4	A	T	3: 151,542,733	I681F	possibly damaging	Het
Adgrv1	T	A	13: 81,528,701	M2004L	probably benign	Het
Anapc1	A	G	2: 128,659,768	S785P	possibly damaging	Het
Ap3d1	A	T	10: 80,723,698	I242N	probably damaging	Het
Arhgap5	T	C	12: 52,519,144	L966P	probably benign	Het
Atp8a1	T	C	5: 67,738,451	T547A	probably benign	Het
Cadps	A	G	14: 12,505,811	F753S	probably damaging	Het
Cdc20b	T	C	13: 113,078,653	S252P	possibly damaging	Het
Cep63	A	G	9: 102,625,927		probably benign	Het
Chrna5	G	T	9: 55,005,133	V302L	probably benign	Het
Crtc2	A	G	3: 90,261,071	T374A	probably damaging	Het
Dmtf1	T	G	5: 9,137,149	D140A	probably damaging	Het
Exosc8	C	T	3: 54,733,699	V39M	probably damaging	Het
Fam135b	A	C	15: 71,463,315	S677A	probably damaging	Het
Hif1an	T	C	19: 44,563,389	Y93H	probably damaging	Het
Jmjd1c	A	G	10: 67,189,820	T139A	possibly damaging	Het
Kdr	T	G	5: 75,968,451	R178S	probably benign	Het
Lrrc61	A	C	6: 48,568,432	N63T	probably damaging	Het
Mrc1	C	T	2: 14,325,237	A1219V	possibly damaging	Het
Neto1	T	C	18: 86,498,635	V359A	probably benign	Het
Ngly1	T	C	14: 16,281,836	I364T	probably benign	Het
Nisch	C	T	14: 31,185,344		probably benign	Het
Olfr1373	C	A	11: 52,145,352	M59I	probably benign	Het
Prrc2a	T	C	17: 35,155,675	D1333G	probably damaging	Het
Raly	G	T	2: 154,861,910	V134F	probably damaging	Het
Rbm6	T	C	9: 107,852,231	Y406C	probably damaging	Het
Robo4	G	C	9: 37,402,067	E6Q	possibly damaging	Het
Scnn1g	C	A	7: 121,760,444	S383R	probably benign	Het
Sgtb	T	C	13: 104,111,151	W13R	probably benign	Het
Slit3	T	C	11: 35,544,806		probably null	Het
Tbc1d32	G	A	10: 56,151,811	Q732*	probably null	Het
Tek	T	A	4: 94,804,944	C247S	probably damaging	Het
Tmf1	A	T	6: 97,176,838	D91E	probably damaging	Het
Usp39	A	G	6: 72,333,157	L326P	probably damaging	Het
Vmn2r7	A	T	3: 64,690,827	C770S	probably damaging	Het
Wdr31	C	T	4: 62,457,565	G58R	probably benign	Het
Zfyve26	A	G	12: 79,266,449	I54T	probably damaging	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
R6699:Hrc	UTSW	7	45335695	missense	possibly damaging	0.85
R6809:Hrc	UTSW	7	45336379	missense	probably benign
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'- GCACACTTGTCTCCTTTGGG -3'
(R):5'- AGACAATGCCATCCTCATCTTCG -3'

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

Posted On

2018-10-18