Mutagenetix > Incidental Mutation

Incidental Mutation 'R9502:Trhde'

717654

Institutional Source

Beutler Lab

Gene Symbol

Trhde

Ensembl Gene

ENSMUSG00000050663

Gene Name

TRH-degrading enzyme

Synonyms

9330155P21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R9502 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114234725-114638207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114636697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 170 (V170E)

Ref Sequence

ENSEMBL: ENSMUSP00000057449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061632]

AlphaFold

Q8K093

Predicted Effect

probably damaging
Transcript: ENSMUST00000061632
AA Change: V170E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057449
Gene: ENSMUSG00000050663
AA Change: V170E

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
Pfam:Peptidase_M1	141	531	2.6e-141	PFAM
Pfam:ERAP1_C	679	1004	5.7e-65	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase M1 family. The encoded protein is an extracellular peptidase that specifically cleaves and inactivates the neuropeptide thyrotropin-releasing hormone.[provided by RefSeq, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	A	1: 52,964,662 (GRCm39)	H22L	possibly damaging	Het
Abca2	C	A	2: 25,326,895 (GRCm39)	Y590*	probably null	Het
Acot1	G	T	12: 84,061,353 (GRCm39)	E220*	probably null	Het
Acsl5	T	G	19: 55,271,744 (GRCm39)	I292S	probably benign	Het
Acvr1b	C	T	15: 101,092,710 (GRCm39)	H118Y	probably benign	Het
Aggf1	A	G	13: 95,507,450 (GRCm39)	C112R	probably benign	Het
Ap2a2	T	A	7: 141,178,689 (GRCm39)	N105K	probably benign	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Carmil1	T	C	13: 24,323,357 (GRCm39)	T232A	probably benign	Het
Ccser2	A	G	14: 36,631,090 (GRCm39)	F649L	probably benign	Het
Cdcp3	T	C	7: 130,836,815 (GRCm39)	V419A	possibly damaging	Het
Cenpf	G	A	1: 189,388,978 (GRCm39)	T1618I	probably damaging	Het
Ces5a	G	A	8: 94,262,308 (GRCm39)	Q10*	probably null	Het
Cfap20dc	A	G	14: 8,659,452 (GRCm38)	F48L	probably damaging	Het
Cfh	A	T	1: 140,040,320 (GRCm39)	L592Q	possibly damaging	Het
Chchd6	T	C	6: 89,396,763 (GRCm39)	H216R	probably damaging	Het
Chrm5	A	T	2: 112,311,040 (GRCm39)	H25Q	probably damaging	Het
Clasp2	C	T	9: 113,737,866 (GRCm39)	T1080I	probably benign	Het
Clic6	G	T	16: 92,295,588 (GRCm39)	G83C	probably damaging	Het
Coro1c	A	T	5: 113,988,781 (GRCm39)	S187R	probably damaging	Het
Cyp2a4	A	G	7: 26,008,004 (GRCm39)	D137G	probably benign	Het
Ddhd1	G	T	14: 45,894,679 (GRCm39)	Q264K	possibly damaging	Het
Dhdds	A	T	4: 133,707,497 (GRCm39)	Y235N	probably damaging	Het
Ephb1	T	C	9: 101,918,486 (GRCm39)	E341G	probably damaging	Het
Fam53b	T	C	7: 132,361,740 (GRCm39)	D96G	probably benign	Het
Fcgbpl1	A	G	7: 27,836,891 (GRCm39)	D270G	probably benign	Het
Fermt1	G	T	2: 132,781,388 (GRCm39)	R67S	probably benign	Het
Fmnl2	C	A	2: 52,998,312 (GRCm39)	P559H	unknown	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Frmpd2	T	A	14: 33,227,404 (GRCm39)	F261I	probably benign	Het
Garem2	T	A	5: 30,321,750 (GRCm39)	L703Q	possibly damaging	Het
Ggct	T	A	6: 54,962,872 (GRCm39)	I180F	possibly damaging	Het
Gigyf2	T	A	1: 87,331,446 (GRCm39)	I198K	unknown	Het
Gucy2d	T	C	7: 98,107,942 (GRCm39)	F700L	probably benign	Het
Gucy2g	T	A	19: 55,198,816 (GRCm39)	I776F	probably damaging	Het
H2ac8	T	C	13: 23,755,045 (GRCm39)	I80V	probably benign	Het
Has1	T	C	17: 18,063,971 (GRCm39)	Y556C	probably damaging	Het
Hecw1	T	C	13: 14,546,567 (GRCm39)	I145V	probably damaging	Het
Helz2	T	A	2: 180,878,245 (GRCm39)	Y851F	possibly damaging	Het
Hes7	C	A	11: 69,013,711 (GRCm39)	P190Q	probably benign	Het
Hivep1	T	C	13: 42,322,779 (GRCm39)	C79R		Het
Hnrnpr	A	G	4: 136,056,681 (GRCm39)	D227G	probably damaging	Het
Hoxb9	C	A	11: 96,162,544 (GRCm39)	F59L	probably benign	Het
Hspb1	A	T	5: 135,917,930 (GRCm39)	H135L	probably benign	Het
Igkv1-122	T	A	6: 67,994,348 (GRCm39)	F79I	probably benign	Het
Igtp	G	C	11: 58,097,800 (GRCm39)	V324L	possibly damaging	Het
Il18r1	G	A	1: 40,528,852 (GRCm39)	A299T	probably benign	Het
Kat14	C	A	2: 144,235,527 (GRCm39)	P329Q	probably damaging	Het
Krt33b	T	A	11: 99,917,315 (GRCm39)	Q179L	probably benign	Het
Lrrk2	C	T	15: 91,607,365 (GRCm39)	A576V	probably damaging	Het
Map3k11	A	G	19: 5,740,624 (GRCm39)	E117G	probably damaging	Het
Mgme1	C	T	2: 144,114,156 (GRCm39)	A86V	probably benign	Het
Mks1	C	A	11: 87,753,766 (GRCm39)	A534E	probably damaging	Het
Mrpl28	T	A	17: 26,343,594 (GRCm39)	I118N	probably damaging	Het
Mrps22	T	A	9: 98,480,219 (GRCm39)	Y102F	probably damaging	Het
Myt1	A	T	2: 181,461,991 (GRCm39)	H1000L	probably damaging	Het
Ncoa5	A	G	2: 164,854,802 (GRCm39)	Y107H	possibly damaging	Het
Nipsnap3a	A	T	4: 52,994,039 (GRCm39)	Y40F	probably benign	Het
Nlrc4	T	A	17: 74,752,580 (GRCm39)	Y601F	probably benign	Het
Obsl1	A	G	1: 75,466,267 (GRCm39)	L1487P	probably damaging	Het
Oit3	A	T	10: 59,264,173 (GRCm39)	N320K	probably damaging	Het
Or1e33	T	C	11: 73,738,825 (GRCm39)	N42S	probably damaging	Het
Or7a38	A	G	10: 78,753,559 (GRCm39)	N295S	probably damaging	Het
Otud4	T	C	8: 80,400,480 (GRCm39)	S1065P	probably benign	Het
P3h1	A	C	4: 119,094,008 (GRCm39)	E221A	possibly damaging	Het
Pgpep1	C	A	8: 71,103,899 (GRCm39)	A124S	probably benign	Het
Pigg	T	A	5: 108,495,782 (GRCm39)	S940T		Het
Proser3	G	T	7: 30,245,587 (GRCm39)	T139K	possibly damaging	Het
Prr36	C	T	8: 4,264,775 (GRCm39)	R297H	unknown	Het
Rai14	A	T	15: 10,587,947 (GRCm39)	F306I	possibly damaging	Het
Rnase13	T	A	14: 52,159,825 (GRCm39)	N105Y	probably damaging	Het
Ros1	A	G	10: 52,000,174 (GRCm39)	I1138T	probably benign	Het
Rsbn1	C	A	3: 103,822,146 (GRCm39)	T127K	possibly damaging	Het
Rsf1	G	GCCGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Rtca	T	C	3: 116,301,413 (GRCm39)	T45A	probably benign	Het
Sema6b	G	T	17: 56,439,500 (GRCm39)	D82E	probably benign	Het
Serpinc1	A	T	1: 160,821,179 (GRCm39)	K209*	probably null	Het
Slc4a1	C	A	11: 102,247,674 (GRCm39)	R403L	probably damaging	Het
Smtn	A	G	11: 3,482,780 (GRCm39)	V92A	possibly damaging	Het
Spag9	T	C	11: 93,959,792 (GRCm39)	V327A	probably damaging	Het
Spdl1	T	C	11: 34,713,283 (GRCm39)	N233S	possibly damaging	Het
Stimate	A	G	14: 30,593,463 (GRCm39)	N189S	probably damaging	Het
Ston2	T	C	12: 91,707,424 (GRCm39)	D62G	possibly damaging	Het
Sult2a5	A	G	7: 13,359,243 (GRCm39)	D73G	probably benign	Het
Ticrr	A	G	7: 79,343,597 (GRCm39)	E1154G	probably benign	Het
Tmem163	A	T	1: 127,480,529 (GRCm39)	M111K	probably damaging	Het
Tmem266	T	C	9: 55,344,973 (GRCm39)	V535A	probably damaging	Het
Tmprss7	T	A	16: 45,484,555 (GRCm39)	D535V	probably damaging	Het
Tmt1a	T	C	15: 100,203,215 (GRCm39)	V163A	probably damaging	Het
Tpcn1	A	C	5: 120,698,390 (GRCm39)	I44S	probably benign	Het
Trbv12-1	T	A	6: 41,090,921 (GRCm39)	F98I	probably damaging	Het
Trpt1	A	T	19: 6,975,578 (GRCm39)	T111S	probably benign	Het
Ttc13	T	C	8: 125,410,010 (GRCm39)	T401A	possibly damaging	Het
Ulbp1	T	C	10: 7,423,260 (GRCm39)	I28V	probably benign	Het
Vldlr	A	T	19: 27,218,742 (GRCm39)	D531V	probably damaging	Het
Vmn2r85	T	A	10: 130,261,387 (GRCm39)	T317S	probably damaging	Het
Vps33a	T	C	5: 123,696,705 (GRCm39)	K316R	probably benign	Het
Vwa3b	A	G	1: 37,099,520 (GRCm39)	N245S	probably damaging	Het
Zfp266	A	T	9: 20,413,413 (GRCm39)	C82*	probably null	Het
Zfp746	T	C	6: 48,041,397 (GRCm39)	K443R	probably damaging	Het

Other mutations in Trhde

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Trhde	APN	10	114,322,652 (GRCm39)	missense	possibly damaging	0.77
IGL00516:Trhde	APN	10	114,282,104 (GRCm39)	missense	probably benign	0.01
IGL01371:Trhde	APN	10	114,424,405 (GRCm39)	missense	possibly damaging	0.57
IGL01488:Trhde	APN	10	114,282,063 (GRCm39)	missense	possibly damaging	0.58
IGL01602:Trhde	APN	10	114,623,848 (GRCm39)	missense	probably benign
IGL01605:Trhde	APN	10	114,623,848 (GRCm39)	missense	probably benign
IGL02150:Trhde	APN	10	114,428,013 (GRCm39)	missense	probably damaging	1.00
IGL02165:Trhde	APN	10	114,428,066 (GRCm39)	missense	probably damaging	1.00
IGL02340:Trhde	APN	10	114,428,118 (GRCm39)	splice site	probably benign
IGL02412:Trhde	APN	10	114,322,830 (GRCm39)	missense	probably damaging	1.00
IGL02421:Trhde	APN	10	114,248,366 (GRCm39)	missense	probably damaging	1.00
IGL02496:Trhde	APN	10	114,636,466 (GRCm39)	nonsense	probably null
IGL02952:Trhde	APN	10	114,636,478 (GRCm39)	missense	probably damaging	0.99
IGL03197:Trhde	APN	10	114,249,213 (GRCm39)	missense	probably benign	0.00
Cata	UTSW	10	114,427,971 (GRCm39)	missense	probably damaging	1.00
l3-37	UTSW	10	114,636,986 (GRCm39)	missense	probably benign
Pelte	UTSW	10	114,322,609 (GRCm39)	critical splice donor site	probably null
G1Funyon:Trhde	UTSW	10	114,322,911 (GRCm39)	missense	probably benign	0.03
R0360:Trhde	UTSW	10	114,338,887 (GRCm39)	splice site	probably benign
R0364:Trhde	UTSW	10	114,338,887 (GRCm39)	splice site	probably benign
R0457:Trhde	UTSW	10	114,284,167 (GRCm39)	missense	probably benign	0.37
R0589:Trhde	UTSW	10	114,284,229 (GRCm39)	missense	probably benign	0.01
R1132:Trhde	UTSW	10	114,248,383 (GRCm39)	missense	possibly damaging	0.86
R1288:Trhde	UTSW	10	114,637,195 (GRCm39)	missense	probably benign	0.37
R1569:Trhde	UTSW	10	114,282,093 (GRCm39)	missense	possibly damaging	0.78
R1776:Trhde	UTSW	10	114,636,508 (GRCm39)	missense	probably benign	0.06
R1781:Trhde	UTSW	10	114,424,405 (GRCm39)	missense	possibly damaging	0.57
R1927:Trhde	UTSW	10	114,636,754 (GRCm39)	missense	probably damaging	1.00
R1976:Trhde	UTSW	10	114,424,336 (GRCm39)	missense	possibly damaging	0.57
R2011:Trhde	UTSW	10	114,334,698 (GRCm39)	missense	probably benign	0.02
R2332:Trhde	UTSW	10	114,428,070 (GRCm39)	missense	probably damaging	1.00
R2356:Trhde	UTSW	10	114,237,421 (GRCm39)	missense	probably damaging	1.00
R3107:Trhde	UTSW	10	114,427,971 (GRCm39)	missense	probably damaging	1.00
R3108:Trhde	UTSW	10	114,427,971 (GRCm39)	missense	probably damaging	1.00
R3907:Trhde	UTSW	10	114,636,601 (GRCm39)	missense	possibly damaging	0.72
R4067:Trhde	UTSW	10	114,280,585 (GRCm39)	nonsense	probably null
R4214:Trhde	UTSW	10	114,623,975 (GRCm39)	missense	possibly damaging	0.51
R4428:Trhde	UTSW	10	114,339,028 (GRCm39)	missense	probably damaging	1.00
R4429:Trhde	UTSW	10	114,339,028 (GRCm39)	missense	probably damaging	1.00
R4430:Trhde	UTSW	10	114,339,028 (GRCm39)	missense	probably damaging	1.00
R5244:Trhde	UTSW	10	114,636,986 (GRCm39)	missense	probably benign
R5456:Trhde	UTSW	10	114,322,665 (GRCm39)	missense	possibly damaging	0.58
R5540:Trhde	UTSW	10	114,636,497 (GRCm39)	missense	probably benign	0.45
R5699:Trhde	UTSW	10	114,424,407 (GRCm39)	missense	probably benign	0.00
R5967:Trhde	UTSW	10	114,403,039 (GRCm39)	missense	probably damaging	1.00
R6326:Trhde	UTSW	10	114,403,129 (GRCm39)	missense	probably damaging	1.00
R6467:Trhde	UTSW	10	114,340,103 (GRCm39)	missense	probably damaging	1.00
R7028:Trhde	UTSW	10	114,354,082 (GRCm39)	missense	probably damaging	1.00
R7264:Trhde	UTSW	10	114,636,776 (GRCm39)	missense	possibly damaging	0.93
R7266:Trhde	UTSW	10	114,636,776 (GRCm39)	missense	possibly damaging	0.93
R7310:Trhde	UTSW	10	114,636,478 (GRCm39)	missense	probably damaging	0.99
R7460:Trhde	UTSW	10	114,249,168 (GRCm39)	missense	probably damaging	1.00
R7732:Trhde	UTSW	10	114,623,969 (GRCm39)	missense	probably benign
R7842:Trhde	UTSW	10	114,532,003 (GRCm39)	missense	possibly damaging	0.86
R8178:Trhde	UTSW	10	114,244,598 (GRCm39)	missense	possibly damaging	0.93
R8209:Trhde	UTSW	10	114,403,133 (GRCm39)	missense	probably damaging	1.00
R8226:Trhde	UTSW	10	114,403,133 (GRCm39)	missense	probably damaging	1.00
R8232:Trhde	UTSW	10	114,636,442 (GRCm39)	missense	possibly damaging	0.90
R8301:Trhde	UTSW	10	114,322,911 (GRCm39)	missense	probably benign	0.03
R8312:Trhde	UTSW	10	114,249,192 (GRCm39)	missense	probably damaging	1.00
R8335:Trhde	UTSW	10	114,322,609 (GRCm39)	critical splice donor site	probably null
R8477:Trhde	UTSW	10	114,636,622 (GRCm39)	missense	probably benign	0.02
R8853:Trhde	UTSW	10	114,636,830 (GRCm39)	missense	probably benign
R8953:Trhde	UTSW	10	114,338,966 (GRCm39)	missense	probably damaging	0.98
R9375:Trhde	UTSW	10	114,244,598 (GRCm39)	missense	probably damaging	0.99
R9477:Trhde	UTSW	10	114,338,980 (GRCm39)	missense	probably benign	0.03
R9486:Trhde	UTSW	10	114,532,014 (GRCm39)	missense	possibly damaging	0.89
Z1177:Trhde	UTSW	10	114,284,294 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGGTTCTGTTCAATACCACC -3'
(R):5'- AGCAGCTTTCCAGGTTCTGC -3'

Sequencing Primer
(F):5'- CACCAAGACCTGCGTTTGTG -3'
(R):5'- GGAATCCTCTCAGCGTGAG -3'

Posted On

2022-07-18