Mutagenetix > Incidental Mutation

Incidental Mutation 'R3926:Pycr1'

308292

Institutional Source

Beutler Lab

Gene Symbol

Pycr1

Ensembl Gene

ENSMUSG00000025140

Gene Name

pyrroline-5-carboxylate reductase 1

Synonyms

MMRRC Submission

040821-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3926 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120527591-120534602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120532961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 100 (T100A)

Ref Sequence

ENSEMBL: ENSMUSP00000117737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026133] [ENSMUST00000026134] [ENSMUST00000139706] [ENSMUST00000141254] [ENSMUST00000151876] [ENSMUST00000170556]

AlphaFold

Q922W5

Predicted Effect

probably benign
Transcript: ENSMUST00000026133
AA Change: T100A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000026133
Gene: ENSMUSG00000025140
AA Change: T100A

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	2	98	5e-23	PFAM
Pfam:NAD_Gly3P_dh_N	2	144	9e-9	PFAM
Pfam:P5CR_dimer	162	268	2e-42	PFAM
low complexity region	292	303	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000026134

SMART Domains

Protein: ENSMUSP00000026134
Gene: ENSMUSG00000025141

Domain	Start	End	E-Value	Type
Pfam:MARVEL	17	149	3.3e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133908

Predicted Effect

probably benign
Transcript: ENSMUST00000139706
AA Change: T100A

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117737
Gene: ENSMUSG00000025140
AA Change: T100A

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	2	98	8.9e-25	PFAM
Pfam:NAD_Gly3P_dh_N	2	145	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141254
AA Change: T100A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000114863
Gene: ENSMUSG00000025140
AA Change: T100A

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	2	98	2.5e-24	PFAM
Pfam:NAD_Gly3P_dh_N	2	145	3.5e-9	PFAM
Pfam:P5CR_dimer	162	238	6.3e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145047

Predicted Effect

probably benign
Transcript: ENSMUST00000151876
AA Change: T70A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000120558
Gene: ENSMUSG00000025140
AA Change: T70A

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	1	68	5.7e-13	PFAM
Pfam:NAD_Gly3P_dh_N	13	119	3e-8	PFAM
Pfam:P5CR_dimer	132	164	2.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170556
AA Change: T100A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000131199
Gene: ENSMUSG00000025140
AA Change: T100A

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	2	98	8.4e-24	PFAM
Pfam:P5CR_dimer	163	267	2.3e-40	PFAM
low complexity region	292	303	N/A	INTRINSIC

Meta Mutation Damage Score

0.4257

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Ahnak	G	A	19: 8,983,692 (GRCm39)	D1659N	probably benign	Het
Arfgap2	C	T	2: 91,105,150 (GRCm39)	R405W	probably damaging	Het
Asb14	T	C	14: 26,619,695 (GRCm39)	I48T	possibly damaging	Het
Astn1	A	T	1: 158,407,227 (GRCm39)	I559F	possibly damaging	Het
Atg7	C	T	6: 114,650,639 (GRCm39)	T83M	possibly damaging	Het
Bco1	T	C	8: 117,854,211 (GRCm39)	S379P	probably benign	Het
Becn2	T	C	1: 175,748,852 (GRCm39)	V306A	probably benign	Het
Bst1	T	C	5: 43,997,796 (GRCm39)	V265A	possibly damaging	Het
Car11	T	C	7: 45,349,915 (GRCm39)	F45L	probably benign	Het
Cdkl2	T	C	5: 92,180,998 (GRCm39)	I214V	possibly damaging	Het
Cluap1	T	A	16: 3,729,398 (GRCm39)	S141T	probably damaging	Het
Col11a1	C	T	3: 113,883,773 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Corin	T	G	5: 72,529,473 (GRCm39)	D294A	probably damaging	Het
Crct1	C	A	3: 92,922,014 (GRCm39)		probably benign	Het
Ddx41	A	G	13: 55,679,083 (GRCm39)	L559P	probably damaging	Het
Ddx59	T	A	1: 136,344,482 (GRCm39)	V51D	probably benign	Het
Dennd1b	A	G	1: 139,071,697 (GRCm39)	N397D	probably benign	Het
Evc2	T	A	5: 37,540,574 (GRCm39)	L590Q	probably damaging	Het
Fhl5	A	T	4: 25,214,790 (GRCm39)		probably benign	Het
Flg2	A	G	3: 93,110,522 (GRCm39)	Y850C	unknown	Het
Gal3st2b	G	T	1: 93,868,512 (GRCm39)	V246L	probably benign	Het
Jam3	A	T	9: 27,017,701 (GRCm39)	I29K	possibly damaging	Het
Klhl1	A	T	14: 96,584,316 (GRCm39)	C305S	possibly damaging	Het
Lims2	A	G	18: 32,090,996 (GRCm39)	S327G	probably benign	Het
Lynx1	A	G	15: 74,623,205 (GRCm39)	Y76H	probably damaging	Het
Mycbp2	G	A	14: 103,441,936 (GRCm39)	P1943L	probably damaging	Het
Myo3a	A	G	2: 22,455,053 (GRCm39)	D86G	probably damaging	Het
Nkx3-2	T	A	5: 41,919,223 (GRCm39)	Q255L	probably damaging	Het
Notch3	C	T	17: 32,372,531 (GRCm39)	R641H	possibly damaging	Het
Nr2c2	T	A	6: 92,137,382 (GRCm39)	M431K	probably damaging	Het
Ogfod3	T	C	11: 121,074,255 (GRCm39)	T265A	probably damaging	Het
Pcdh9	G	T	14: 94,124,246 (GRCm39)	Y641*	probably null	Het
Pcdha9	T	A	18: 37,132,465 (GRCm39)	D511E	probably damaging	Het
Pcdhgb8	A	G	18: 37,895,443 (GRCm39)	Y171C	probably damaging	Het
Pcnx1	T	C	12: 82,005,505 (GRCm39)	C1075R	probably damaging	Het
Pik3c3	C	A	18: 30,444,382 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,621,097 (GRCm39)	T854A	probably benign	Het
Rhof	T	C	5: 123,242,593 (GRCm39)		probably null	Het
Scn9a	T	A	2: 66,357,217 (GRCm39)	D1028V	possibly damaging	Het
Serpina3f	T	C	12: 104,185,740 (GRCm39)	I315T	possibly damaging	Het
Slc1a6	T	A	10: 78,648,715 (GRCm39)	S479T	possibly damaging	Het
Tmcc1	T	C	6: 116,019,874 (GRCm39)	D166G	probably damaging	Het
Trav3-3	A	G	14: 53,903,828 (GRCm39)	K49E	probably benign	Het
Usp28	T	C	9: 48,942,223 (GRCm39)		probably null	Het
Utrn	C	T	10: 12,573,786 (GRCm39)	V1095I	probably benign	Het
Zfp217	T	C	2: 169,954,438 (GRCm39)	D1038G	probably damaging	Het
Zfp709	A	G	8: 72,644,397 (GRCm39)	R609G	probably damaging	Het
Zfp729a	T	A	13: 67,768,310 (GRCm39)	K640*	probably null	Het
Zfp986	A	T	4: 145,619,090 (GRCm39)		probably benign	Het
Zkscan6	A	T	11: 65,719,051 (GRCm39)	H357L	probably benign	Het

Other mutations in Pycr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01811:Pycr1	APN	11	120,532,092 (GRCm39)	missense	probably benign	0.00
R0285:Pycr1	UTSW	11	120,531,142 (GRCm39)	missense	probably benign	0.01
R0400:Pycr1	UTSW	11	120,532,352 (GRCm39)	splice site	probably benign
R2047:Pycr1	UTSW	11	120,532,512 (GRCm39)	missense	possibly damaging	0.89
R3548:Pycr1	UTSW	11	120,533,072 (GRCm39)	missense	probably benign	0.22
R3925:Pycr1	UTSW	11	120,532,961 (GRCm39)	missense	probably benign	0.09
R4166:Pycr1	UTSW	11	120,532,949 (GRCm39)	missense	probably benign	0.00
R5261:Pycr1	UTSW	11	120,532,050 (GRCm39)	missense	probably damaging	1.00
R5906:Pycr1	UTSW	11	120,532,988 (GRCm39)	missense	probably damaging	0.98
R7426:Pycr1	UTSW	11	120,533,749 (GRCm39)	missense	probably benign	0.02
R7985:Pycr1	UTSW	11	120,533,746 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGTGCTTCCCCTATGGAGC -3'
(R):5'- CTCAGCTTTGTGGGCAGATAGATG -3'

Sequencing Primer
(F):5'- ATGGAGCACTTCCTGAGTTC -3'
(R):5'- AAGCTGGGTCTCCTTGCAC -3'

Posted On

2015-04-17