Mutagenetix > Incidental Mutation

Incidental Mutation 'R9148:Hpn'

694800

Institutional Source

Beutler Lab

Gene Symbol

Hpn

Ensembl Gene

ENSMUSG00000001249

Gene Name

hepsin

Synonyms

Hlb320

MMRRC Submission

068937-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9148 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30798150-30814715 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30802043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 252 (R252Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039435] [ENSMUST00000108102] [ENSMUST00000165124] [ENSMUST00000168884] [ENSMUST00000171259]

AlphaFold

O35453

Predicted Effect

probably benign
Transcript: ENSMUST00000039435
AA Change: R252Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000038149
Gene: ENSMUSG00000001249
AA Change: R252Q

Domain	Start	End	E-Value	Type
transmembrane domain	46	68	N/A	INTRINSIC
SR	82	179	8.44e-5	SMART
Tryp_SPc	190	428	3.09e-98	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108102
AA Change: R243Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103737
Gene: ENSMUSG00000001249
AA Change: R243Q

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
SR	73	170	8.44e-5	SMART
Tryp_SPc	181	419	3.09e-98	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165124

Predicted Effect

probably benign
Transcript: ENSMUST00000168884
AA Change: R223Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131658
Gene: ENSMUSG00000001249
AA Change: R223Q

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
SR	53	150	8.44e-5	SMART
Tryp_SPc	161	399	3.09e-98	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171225

Predicted Effect

probably benign
Transcript: ENSMUST00000171259

SMART Domains

Protein: ENSMUSP00000132307
Gene: ENSMUSG00000001249

Domain	Start	End	E-Value	Type
Tryp_SPc	1	142	5.41e-30	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (94/98)

MGI Phenotype

FUNCTION: This gene encodes a type II transmembrane serine protease that may function in diverse processes, including regulation of cell growth. Deficiency in this gene results in hearing loss. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a null mutation are hypothyroidic and develop profound hearing loss associated with structural changes in the tectorial membrane and a myelination defect affecting the compaction of spiral ganglion neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	A	3: 68,777,345 (GRCm39)	I102N	probably damaging	Het
2610008E11Rik	A	T	10: 78,903,406 (GRCm39)	C303*	probably null	Het
A430033K04Rik	T	A	5: 138,644,547 (GRCm39)	V144D	possibly damaging	Het
Adamts13	T	A	2: 26,883,024 (GRCm39)	M858K	probably benign	Het
Ankrd29	T	C	18: 12,408,760 (GRCm39)		probably benign	Het
Arg1	A	C	10: 24,796,655 (GRCm39)	D57E	probably benign	Het
Bend4	G	A	5: 67,557,415 (GRCm39)	T467M	probably damaging	Het
C1s1	T	C	6: 124,517,758 (GRCm39)	D74G	probably damaging	Het
Cacnb2	G	A	2: 14,972,773 (GRCm39)	G227S	possibly damaging	Het
Cbs	T	C	17: 31,844,889 (GRCm39)	D137G	probably damaging	Het
Ccdc136	A	G	6: 29,418,070 (GRCm39)	E846G	probably damaging	Het
Cd6	A	T	19: 10,776,855 (GRCm39)	S57T	probably benign	Het
Cep20	G	A	16: 14,135,222 (GRCm39)		probably benign	Het
Col11a2	T	A	17: 34,273,119 (GRCm39)		probably benign	Het
Col7a1	T	C	9: 108,789,274 (GRCm39)	S829P	unknown	Het
Ctsj	T	C	13: 61,149,249 (GRCm39)	Y264C	probably damaging	Het
Dennd3	T	A	15: 73,429,463 (GRCm39)	N915K	probably damaging	Het
E2f2	A	T	4: 135,908,595 (GRCm39)		probably null	Het
Eme1	T	C	11: 94,538,855 (GRCm39)	T342A	possibly damaging	Het
Epc1	A	T	18: 6,453,266 (GRCm39)		probably benign	Het
Fat1	T	C	8: 45,405,682 (GRCm39)	V811A	possibly damaging	Het
Fbxo2	A	G	4: 148,250,166 (GRCm39)	E232G	probably damaging	Het
Flnb	G	T	14: 7,817,996 (GRCm38)		probably benign	Het
Fmn1	A	C	2: 113,271,973 (GRCm39)	N114H	unknown	Het
Foxp2	A	T	6: 15,286,711 (GRCm39)	Q67L	possibly damaging	Het
Galntl5	A	T	5: 25,415,353 (GRCm39)	I295L	possibly damaging	Het
Gjd4	T	A	18: 9,280,095 (GRCm39)	T328S	probably benign	Het
Hint2	A	G	4: 43,654,952 (GRCm39)	I59T	probably damaging	Het
Hspa12a	T	G	19: 58,793,890 (GRCm39)	T324P	probably damaging	Het
Ighv4-1	A	T	12: 113,912,000 (GRCm39)	D84E	possibly damaging	Het
Il1r2	T	A	1: 40,151,258 (GRCm39)	I171N	probably damaging	Het
Il31ra	C	T	13: 112,670,276 (GRCm39)	E371K	probably benign	Het
Klhl24	C	T	16: 19,936,690 (GRCm39)	R433C	probably damaging	Het
Klra5	C	T	6: 129,886,911 (GRCm39)	C39Y	probably benign	Het
Lypd8l	T	A	11: 58,499,338 (GRCm39)	D160V	probably benign	Het
Macc1	T	C	12: 119,414,091 (GRCm39)	S756P	possibly damaging	Het
Mael	A	G	1: 166,029,259 (GRCm39)	V388A	probably benign	Het
Mast3	A	G	8: 71,233,091 (GRCm39)	S1074P	probably damaging	Het
Med13	A	G	11: 86,192,297 (GRCm39)	C823R	probably benign	Het
Megf6	A	G	4: 154,339,130 (GRCm39)	T556A	probably benign	Het
Mlip	A	G	9: 77,045,694 (GRCm39)	F14L	possibly damaging	Het
Moxd2	C	A	6: 40,860,978 (GRCm39)	C271F	probably damaging	Het
Myo1e	A	T	9: 70,283,830 (GRCm39)	D842V	probably damaging	Het
Ndst4	C	T	3: 125,231,722 (GRCm39)	A97V	probably damaging	Het
Nherf4	A	G	9: 44,160,676 (GRCm39)	C240R	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nptx2	A	G	5: 144,492,980 (GRCm39)	T356A	probably benign	Het
Nup160	A	G	2: 90,533,489 (GRCm39)	D646G	probably damaging	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or1j19	A	G	2: 36,676,938 (GRCm39)	T134A	probably benign	Het
Or1p1	A	C	11: 74,180,169 (GRCm39)	Q232H	probably damaging	Het
Or5c1	T	C	2: 37,222,017 (GRCm39)	L86P	possibly damaging	Het
Or7h8	T	A	9: 20,124,358 (GRCm39)	F238I	probably damaging	Het
Or8k24	A	G	2: 86,216,324 (GRCm39)	V146A	probably benign	Het
Osbp2	A	G	11: 3,665,143 (GRCm39)	L67P	probably damaging	Het
Pabpc6	C	T	17: 9,886,937 (GRCm39)	S538N	probably benign	Het
Pcdhga1	C	A	18: 37,796,433 (GRCm39)	A479D	possibly damaging	Het
Pdgfd	A	T	9: 6,333,328 (GRCm39)	D172V	probably benign	Het
Pfpl	A	T	19: 12,405,804 (GRCm39)	E18D	possibly damaging	Het
Plat	A	G	8: 23,268,466 (GRCm39)	T373A	probably damaging	Het
Plekhg1	G	A	10: 3,907,527 (GRCm39)	D870N		Het
Ppp1r13b	T	C	12: 111,800,268 (GRCm39)	H626R	probably benign	Het
Ppp6r3	A	T	19: 3,543,974 (GRCm39)	V347D	probably damaging	Het
Prr12	G	T	7: 44,697,242 (GRCm39)	P891H	unknown	Het
Psg22	T	A	7: 18,460,682 (GRCm39)	I437K	probably benign	Het
Ptpra	T	A	2: 30,328,255 (GRCm39)	M192K	probably damaging	Het
Ptpra	G	T	2: 30,328,256 (GRCm39)	M192I	probably benign	Het
Ptprj	G	A	2: 90,288,562 (GRCm39)	S801L	probably benign	Het
Relb	T	C	7: 19,350,276 (GRCm39)	Y228C	probably damaging	Het
Rfx3	A	T	19: 27,878,207 (GRCm39)	V30E	possibly damaging	Het
Rgs2	A	G	1: 143,877,925 (GRCm39)	S124P	probably damaging	Het
Rph3a	T	C	5: 121,086,880 (GRCm39)	N440S	possibly damaging	Het
Ryr2	T	C	13: 11,900,424 (GRCm39)	T104A	probably benign	Het
Scn7a	T	C	2: 66,514,507 (GRCm39)	D1089G	possibly damaging	Het
Sebox	A	G	11: 78,395,222 (GRCm39)	D188G	possibly damaging	Het
Serpinf2	A	T	11: 75,323,418 (GRCm39)	F429L	probably damaging	Het
Six4	A	C	12: 73,155,681 (GRCm39)	S429A	probably benign	Het
Slc2a10	A	T	2: 165,357,543 (GRCm39)	H401L	possibly damaging	Het
Spag16	G	C	1: 70,420,459 (GRCm39)	L482F	probably damaging	Het
Ssbp2	T	C	13: 91,842,141 (GRCm39)	S321P	probably damaging	Het
Syne2	A	G	12: 75,937,158 (GRCm39)	E252G	probably damaging	Het
Synj2	T	C	17: 6,084,172 (GRCm39)	I1178T	probably damaging	Het
Tafa5	T	C	15: 87,428,775 (GRCm39)	I28T	probably benign	Het
Tmem132b	C	A	5: 125,864,167 (GRCm39)	Q758K	probably damaging	Het
Tril	A	G	6: 53,795,137 (GRCm39)	L695P	probably damaging	Het
Ubap1l	T	C	9: 65,276,603 (GRCm39)	L35P	probably damaging	Het
Vmn1r225	T	A	17: 20,722,577 (GRCm39)	M6K	possibly damaging	Het
Vmn1r229	T	C	17: 21,034,758 (GRCm39)	M1T	probably null	Het
Vmn2r80	A	T	10: 79,030,687 (GRCm39)	I838F	probably damaging	Het
Vmn2r98	T	A	17: 19,286,383 (GRCm39)	W294R	probably benign	Het
Wnk1	A	G	6: 119,925,631 (GRCm39)	S1527P	unknown	Het
Wnt11	G	A	7: 98,488,241 (GRCm39)		probably benign	Het
Zdhhc17	A	T	10: 110,785,503 (GRCm39)	S436R	possibly damaging	Het
Zfp12	T	C	5: 143,230,389 (GRCm39)	S271P	probably damaging	Het

Other mutations in Hpn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01532:Hpn	APN	7	30,802,938 (GRCm39)	missense	possibly damaging	0.51
sweetsoup	UTSW	7	30,799,323 (GRCm39)	missense	possibly damaging	0.76
R0238:Hpn	UTSW	7	30,798,815 (GRCm39)	splice site	probably benign
R0671:Hpn	UTSW	7	30,808,585 (GRCm39)	missense	possibly damaging	0.66
R0747:Hpn	UTSW	7	30,798,971 (GRCm39)	missense	probably damaging	1.00
R0864:Hpn	UTSW	7	30,808,426 (GRCm39)	missense	probably benign
R0988:Hpn	UTSW	7	30,799,323 (GRCm39)	missense	possibly damaging	0.76
R1892:Hpn	UTSW	7	30,798,468 (GRCm39)	nonsense	probably null
R1893:Hpn	UTSW	7	30,798,773 (GRCm39)	missense	probably damaging	1.00
R4829:Hpn	UTSW	7	30,798,300 (GRCm39)	utr 3 prime	probably benign
R5152:Hpn	UTSW	7	30,799,261 (GRCm39)	missense	probably damaging	0.99
R5338:Hpn	UTSW	7	30,802,781 (GRCm39)	missense	probably benign	0.20
R5664:Hpn	UTSW	7	30,798,687 (GRCm39)	missense	probably damaging	1.00
R7003:Hpn	UTSW	7	30,810,367 (GRCm39)	intron	probably benign
R8235:Hpn	UTSW	7	30,802,208 (GRCm39)	missense	possibly damaging	0.85
R9160:Hpn	UTSW	7	30,808,402 (GRCm39)	missense	probably benign	0.04
X0019:Hpn	UTSW	7	30,798,460 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGGAGTCCTTAAGCTGAGGC -3'
(R):5'- GTTATGATGGGACCCACCTCTG -3'

Sequencing Primer
(F):5'- GGCTAGACCTCCAGGCTTAC -3'
(R):5'- CCTGCTGTCTGGGGACTG -3'

Posted On

2022-01-20